Unilateral Sensorineural Hearing Loss
Jacques Peltier, MD, Francis B. Quinn, Jr., MD
http://www.utmb.edu/
Genodermatosis
Boris Ioffe, D.O.
http://www.atsu.edu
Genodermatoses and Acquired Syndromes
http://www.atsu.edu
Signaling by Tyrosine Phosphorylation in the Nervous System
http://www.calstatela.edu
Congenital Heart Disease
Katrice L. Herndon, M.D.
http://www.med.wayne.edu
Protein Tyr Phosphatases
http://people.virginia.edu/
Medical Genetics
Harry Ostrer, M.D.
http://education.med.nyu.edu
Mendel and Heredity
http://www.am.dodea.edu
Cutaneous Vascular Diseases
http://www.atsu.edu/
Heart Disease in the Neonate & Fetus
J. Deane Waldman, MD MBA
http://hsc.unm.edu
Genetics and Dysmorphology
Ramanpreet Dhindsa
https://medapps.mercer.edu
Early Intervention: Supports and Services
https://mymission.lamission.
Intellectual Disabilities Definition, Causes, and Characteristics
http://www.hhs.csus.edu
A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
http://www.bcm.edu
Aortic Dissection
Riya Chacko, MD
http://portal.nebh.org
A Case of Hidden Infirmities
Brian Dockery, MD
http://www.uthsc.edu/
Examples of Chromosomal or Mendelian Disorders
http://www.uams.edu/
618 Published articles on Noonan syndrome
1. Wu X, Yin J, Simpson J, Kim KH, Gu S, Hong JH, Bayliss P, Backx PH, Neel BG, Araki T. Increased BRAF heterodimerization is the common pathogenic mechanism for Noonan Syndrome-associated RAF1 mutants. Mol Cell Biol. 2012 Jul 23. [Epub ahead of print]
2. Schulz S, Fröber R, Kraus C, Schneider U. Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. Prenat Diagn. 2012 Jul 23.1-3. doi. 10.1002/pd.3938. [Epub ahead of print]
3. Martínez-Quintana E, Rodríguez-González F, Junquera-Rionda P. Noonan Syndrome and Different Morphologic Expressions of Hypertrophic Cardiomyopathy. Pediatr Cardiol. 2012 Jul 13. [Epub ahead of print]
4. Bouet K, Matías I, García I, García L, González MC, Valcárcel M. Propionic acidemia in a male newborn with Noonan syndrome. a case report. Bol Asoc Med P R. 2012 Jan-Mar;104(1).37-9.
5. Luo C, Yang YF, Yin BL, Chen JL, Huang C, Zhang WZ, Wang J, Zhang H, Yang JF, Tan ZP. Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. Am J Med Genet A. 2012 Aug;158A(8).1918-23. doi. 10.1002/ajmg.a.35471. Epub 2012 Jul 11.
6. Wingbermühle E, Roelofs RL, van der Burgt I, Souren PM, Verhoeven WM, Kessels RP, Egger JI. Cognitive functioning of adults with Noonan syndrome. a case-control study. Genes Brain Behav. 2012 Jul 11;9999(999A). doi. 10.1111/j.1601-183X.2012.00821.x. [Epub ahead of print]
7. Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, Kim GH, Hwang JS, Yang SW, Lee J, Yoo HW. Response to Growth Hormone Therapy in Children with Noonan Syndrome. Correlation with or without PTPN11 Gene Mutation. Horm Res Paediatr. 2012 Jul 3.388-393. [Epub ahead of print]
8. Moskovszky L, Idowu B, Taylor R, Mertens F, Athanasou N, Flanagan A. Analysis of giant cell tumour of bone cells for Noonan syndrome/Cherubism-related mutations. J Oral Pathol Med. 2012 Jun 22. doi. 10.1111/j.1600-0714.2012.01194.x. [Epub ahead of print]
9. Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M. Counteracting effects operating on Src-homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. J Biol Chem. 2012 Jun 18. [Epub ahead of print]
10. Lee PA, Ross J, Germak JA, Gut R. Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American norditropin studies. Web-enabled research (ANSWER) program(R) registry. Int J Pediatr Endocrinol. 2012 Jun 8;2012(1).15. [Epub ahead of print]
11. Croonen EA, Yntema HG, van Minkelen R, van den Ouweland AM, van der Burgt I. Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome. Clin Dysmorphol. 2012 Jun 1. [Epub ahead of print]
12. Nunes P, Aguilar S, Prado SN, Palaré MJ, Ferrão A, Morais A. Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome. BMJ Case Rep. 2012 Mar 20;2012. pii. bcr1020114940. doi. 10.1136/bcr.10.2011.4940.
13. Sharathkumar AA. Bleeding disorders and noonan syndrome. Pediatr Blood Cancer. 2012 Sep;59(3).592. doi. 10.1002/pbc.24151. Epub 2012 May 7.
14. Choudhry KS, Grover M, Tran AA, O'Brian Smith E, Ellis KJ, Lee BH. Decreased bone mineralization in children with Noonan syndrome. another consequence of dysregulated RAS MAPKinase pathway? Mol Genet Metab. 2012 Jun;106(2).237-40. Epub 2012 Apr 11.
15. Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). Am J Med Genet A. 2012 Jun;158A(6).1406-10. doi. 10.1002/ajmg.a.35329. Epub 2012 Apr 23.
16. Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A. 2012 Jun;158A(6).1411-3. doi. 10.1002/ajmg.a.35318. Epub 2012 Apr 23.
17. Ortiz MV, Skoda-Smith S, Rauen KA, Allan RW, Slayton WB. Juvenile Myelomonocytic Leukemia in a 16-Year-Old With Noonan Syndrome. Case Report. J Pediatr Hematol Oncol. 2012 Apr 16. [Epub ahead of print]
18. Binder G, Grathwol S, von Loeper K, Blumenstock G, Kaulitz R, Freiberg C, Webel M, Lissewski C, Zenker M, Paul T. Health and Quality of Life in Adults with Noonan Syndrome. J Pediatr. 2012 Apr 10. [Epub ahead of print]
19. Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain. report of another family with metopic craniosynostosis. Am J Med Genet A. 2012 May;158A(5).1178-84. doi. 10.1002/ajmg.a.35270. Epub 2012 Apr 9.
20. Briggs B, Dickerman JD. Bleeding disorders in Noonan Syndrome. Pediatr Blood Cancer. 2012 Sep;59(3).593. doi. 10.1002/pbc.24150. Epub 2012 Apr 5.
21. De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A. Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. Proc Natl Acad Sci U S A. 2012 Mar 13;109(11).4257-62. Epub 2012 Feb 27.
22. Moos D, Droitcourt C, Rancherevince D, Marec Berard P, Skowron F. Atypical Granular Cell Tumor Occurring in an Individual with Noonan Syndrome Treated with Growth Hormone. Pediatr Dermatol. 2012 Feb 14. doi. 10.1111/j.1525-1470.2011.01641.x. [Epub ahead of print]
23. Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. Am J Med Genet A. 2012 Mar;158A(3).652-8. doi. 10.1002/ajmg.a.34439. Epub 2012 Feb 7.
24. Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R. Characterization of a novel KRAS mutation identified in Noonan syndrome. Am J Med Genet A. 2012 Mar;158A(3).524-32. doi. 10.1002/ajmg.a.34419. Epub 2012 Feb 2.
25. Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. Hum Mutat. 2012 Apr;33(4).703-9. doi. 10.1002/humu.22026. Epub 2012 Feb 14.
26. Yoshino H, Okumachi Y, Akisaki T, Yasuda H, Hara K, Yokono K, Akita H. Bleeding from the small intestine and aortic regurgitation in Noonan syndrome. Intern Med. 2011;50(21).2611-3. Epub 2011 Nov 1.
27. Kappelgaard AM, Laursen T. The benefits of growth hormone therapy in patients with Turner syndrome, Noonan syndrome and children born small for gestational age. Growth Horm IGF Res. 2011 Dec;21(6).305-13. doi. 10.1016/j.ghir.2011.09.004. Epub 2011 Oct 20. Review.
28. Briggs BJ, Dickerman JD. Bleeding disorders in Noonan syndrome. Pediatr Blood Cancer. 2012 Feb;58(2).167-72. doi. 10.1002/pbc.23358. Epub 2011 Oct 19. Review.
29. Karafin M, Jallo GI, Ayars M, Eberhart CG, Rodriguez FJ. Rosette forming glioneuronal tumor in association with Noonan syndrome. pathobiological implications. Clin Neuropathol. 2011 Nov-Dec;30(6).297-300.
30. Paç M, Kibar AE, Oflaz MB, Paç FA. Two cases of Noonan syndrome. aortic coarctation causing a giant aneurysm of the descending aorta. Turk Kardiyol Dern Ars. 2011 Oct;39(7).629. doi. 10.5543/tkda.2011.01603.
31. Bajwa SJ, Gupta S, Kaur J, Panda A, Bajwa SK, Singh A, Parmar SS, Prasad S. Anesthetic considerations and difficult airway management in a case of Noonan syndrome. Saudi J Anaesth. 2011 Jul;5(3).345-7.
32. Alfieri P, Cesarini L, De Rose P, Ricci D, Selicorni A, Menghini D, Guzzetta A, Baranello G, Tinelli F, Mallardi M, Zampino G, Vicari S, Atkinson J, Mercuri E. Visual processing in Noonan syndrome. dorsal and ventral stream sensitivity. Am J Med Genet A. 2011 Oct;155A(10).2459-64. doi. 10.1002/ajmg.a.34229. Epub 2011 Sep 9.
33. Aggarwal V, Malik V, Kapoor PM, Kiran U. Noonan syndrome. an anesthesiologist's perspective. Ann Card Anaesth. 2011 Sep-Dec;14(3).214-7.
34. Marin Lda R, da Silva FT, de Sá LC, Brasil AS, Pereira A, Furquim IM, Kim CA, Bertola DR. Ocular manifestations of Noonan syndrome. Ophthalmic Genet. 2012 Mar;33(1).1-5. Epub 2011 Aug 4.
35. Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest. 2011 Sep;121(9).3479-91. doi. 10.1172/JCI43428. Epub 2011 Aug 1.
36. Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr. 2011 Dec;159(6).1029-35. Epub 2011 Jul 23.
37. Turner AM. Noonan syndrome. J Paediatr Child Health. 2011 Jul 19. doi. 10.1111/j.1440-1754.2010.01970.x. [Epub ahead of print]
38. Hung PC, Wang HS, Wong AM. Moyamoya syndrome in a child with Noonan syndrome. Pediatr Neurol. 2011 Aug;45(2).129-31.
39. Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB. Prenatal features of Noonan syndrome. prevalence and prognostic value. Prenat Diagn. 2011 Oct;31(10).949-54. doi. 10.1002/pd.2804. Epub 2011 Jul 11.
40. Wingbermühle E, Egger JI, Verhoeven WM, van der Burgt I, Kessels RP. Affective functioning and social cognition in Noonan syndrome. Psychol Med. 2011 Jul 11.1-8. [Epub ahead of print]
41. Gulati GS, Gupta A, Juneja R, Saxena A. Ectatic coronary arteries in Noonan syndrome. Tex Heart Inst J. 2011;38(3).318-9.
42. Bakker M, Pajkrt E, Mathijssen IB, Bilardo CM. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2011 Jun 27. doi. 10.1002/pd.2782. [Epub ahead of print]
43. Miyoshi Y, Yasuhara T, Date I. Noonan syndrome with occipito-atlantal dislocation and upper cervical cord compression due to C1 dysplasia and basilar invagination. Neurol Med Chir (Tokyo). 2011;51(6).463-6.
44. Chevallier S, Cook S, Goy JJ. Heart failure in a patient with Noonan syndrome. Circulation. 2011 Jun 14;123(23).e629-30.
45. Papadopoulou A, Issakidis M, Gole E, Kosma K, Fryssira H, Fretzayas A, Nicolaidou P, Kitsiou-Tzeli S. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis. the value of initial clinical assessment. Eur J Pediatr. 2012 Jan;171(1).51-8. Epub 2011 May 18.
46. Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Lethal presentation of neurofibromatosis and Noonan syndrome. Am J Med Genet A. 2011 Jun;155A(6).1360-6. doi. 10.1002/ajmg.a.33996. Epub 2011 May 12.
47. Ankarberg-Lindgren C, Westphal O, Dahlgren J. Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome. a longitudinal study. Eur J Endocrinol. 2011 Jul;165(1).137-44. Epub 2011 May 6.
48. Reig I, Boixeda P, Fleta B, Morenoc C, Gámez L, Truchuelo M. Neurofibromatosis-Noonan syndrome. case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. Dermatol Online J. 2011 Apr 15;17(4).4.
49. Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. Am J Med Genet A. 2011 Jun;155A(6).1217-24. doi. 10.1002/ajmg.a.33987. Epub 2011 May 5.
50. Derbent M. A mother and son with Noonan syndrome resulting from a PTPN11 mutation. Turk J Pediatr. 2011 Jan-Feb;53(1).117; author reply 118.
51. Carcavilla Urquí A, Santomé Collazo JL, Barrio Castellanos R, Ezquieta Zubicaray B. [A case of Noonan Syndrome with coeliac disease due to SOS1 mutation]. Med Clin (Barc). 2011 Nov 26;137(14).666-7. Epub 2011 Apr 27. Spanish.
52. Randolph JC, Sokol JA, Lee HB, Nunery WR. Orbital manifestations of Noonan syndrome. Ophthal Plast Reconstr Surg. 2011 Nov;27(6).e160-3.
53. Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet. 2011 Aug;19(8).870-4. doi. 10.1038/ejhg.2011.37. Epub 2011 Mar 16.
54. Sánchez Andrés A, Moriano Gutiérrez A, Carrasco Moreno JI. [Prenatal hypertrophic cardiomyopathy and neonatal noonan syndrome. an association to remember]. Rev Esp Cardiol. 2011 Jun;64(6).537-8. Epub 2011 Mar 11. Spanish.
55. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1).161-79. Review.
56. Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. SOS1 mutations in Noonan syndrome. molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat. 2011 Jul;32(7).760-72. doi. 10.1002/humu.21492. Epub 2011 Apr 28.
57. Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome. does this predict a more severe phenotype? Arq Bras Endocrinol Metabol. 2010 Nov;54(8).717-22.
58. Wu X, Simpson J, Hong JH, Kim KH, Thavarajah NK, Backx PH, Neel BG, Araki T. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J Clin Invest. 2011 Mar;121(3).1009-25. doi. 10.1172/JCI44929. Epub 2011 Feb 21.
59. Dereure O. [A new "rasopathy". mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome]. Ann Dermatol Venereol. 2011 Jan;138(1).75-6. Epub 2010 Dec 18. French.
60. Hickey EJ, Mehta R, Elmi M, Asoh K, McCrindle BW, Williams WG, Manlhiot C, Benson L. Survival implications. hypertrophic cardiomyopathy in Noonan syndrome. Congenit Heart Dis. 2011 Jan-Feb;6(1).41-7. doi. 10.1111/j.1747-0803.2010.00465.x.
61. de Mooij YM, van den Akker NM, Bekker MN, Bartelings MM, van Vugt JM, Gittenberger-de Groot AC. Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome. Prenat Diagn. 2011 Feb;31(2).159-66. doi. 10.1002/pd.2666. Epub 2011 Jan 4.
62. Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, van Haeringen A, van der Burgt I, Burgering B, den Hertog J. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. Dis Model Mech. 2011 May;4(3).393-9. Epub 2011 Jan 24.
63. Aydin A, Yilmazer MS, Gurol T. Sudden death in a patient with Noonan syndrome. Cardiol Young. 2011 Apr;21(2).233-4. Epub 2010 Dec 22.
64. Bastion ML, Qader AM. Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome. BMJ Case Rep. 2011 May 16;2011. pii. bcr0220113889. doi. 10.1136/bcr.02.2011.3889.
65. Toureno L, Park JH. Atypical orofacial conditions in Noonan syndrome. a case report. J Clin Pediatr Dent. 2011 Winter;36(2).197-202.
66. Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, Seidman C, Bronson R, Neel B, Seidman JG, Kucherlapati R. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. J Clin Invest. 2010 Dec;120(12).4353-65.
67. Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cavé H, Sefiani A. Germinal mosaicism in Noonan syndrome. A family with two affected siblings of normal parents. Am J Med Genet A. 2010 Nov;152A(11).2850-3.
68. Derbent M, Öncel Y, Tokel K, Varan B, Haberal A, Yazici AC, Legius E, Özbek N. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet A. 2010 Nov;152A(11).2768-74.
69. Scully C, Langdon J, Evans J. Marathon of eponyms. 14 Noonan syndrome. Oral Dis. 2010 Nov;16(8).839-40. doi. 10.1111/j.1601-0825.2009.01546.x.
70. Yang T, Meng Y, Shi HP, Zhao SM, Wang G, Huang SZ. [Mutation analysis of PTPN11 gene in Noonan syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5).554-8. Chinese.
71. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome. clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4).746-59. Epub 2010 Sep 27. Review.
72. Eu-ahsunthornwattana J, Trachoo O, Dejsuphong D, Tunteeratum A, Srichan K, Sura T. Noonan syndrome, metabolic syndrome and stroke-in-the-young. coincidence, causal or contribution? J Med Assoc Thai. 2010 Sep;93(9).1084-7.
73. Bastida P, García-Miñaúr S, Ezquieta B, Dapena JL, Sanchez de Toledo J. Myeloproliferative disorder in Noonan syndrome. J Pediatr Hematol Oncol. 2011 Jan;33(1).e43-5.
74. Leventopoulos G, Denayer E, Makrythanasis P, Papapolychroniou C, Fryssira H. Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. Clin Exp Rheumatol. 2010 Jul-Aug;28(4).556-7. Epub 2010 Aug 30.
75. Patrick K, Makris M. Images in haematology. Noonan syndrome associated with bleeding disorders. Br J Haematol. 2010 Oct;151(2).117.
76. Demir K, Yntema HG, Altincik A, Böber E. A mother and son with Noonan syndrome resulting from a PTPN11 mutation. first report of molecularly proven cases from Turkey. Turk J Pediatr. 2010 May-Jun;52(3).321-4.
77. Mehta P, Parker RI. Imbalance of plasminogen activator inhibitor type-1 (PAI-1) and tissue plasminogen activator (t-PA) activity in patients with Noonan syndrome. J Pediatr Hematol Oncol. 2010 Oct;32(7).532-6.
78. Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. Am J Med Genet A. 2010 Sep;152A(9).2176-84.
79. Molzan M, Schumacher B, Ottmann C, Baljuls A, Polzien L, Weyand M, Thiel P, Rose R, Rose M, Kuhenne P, Kaiser M, Rapp UR, Kuhlmann J, Ottmann C. Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling. Mol Cell Biol. 2010 Oct;30(19).4698-711. Epub 2010 Aug 2.
80. Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet. 2010 Sep-Oct;53(5).322-4. Epub 2010 Jul 29.
81. Tartaglia M, Zampino G, Gelb BD. Noonan syndrome. clinical aspects and molecular pathogenesis. Mol Syndromol. 2010 Feb;1(1).2-26. Epub 2010 Jan 15.
82. Ierardo G, Luzzi V, Panetta F, Sfasciotti GL, Polimeni A. Noonan syndrome. A case report. Eur J Paediatr Dent. 2010 Jun;11(2).97-100.
83. Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet. 2010 Aug 13;87(2).250-7. Epub 2010 Jul 8.
84. Hastings R, Newbury-Ecob R, Ng A, Taylor R. A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma. Genes Chromosomes Cancer. 2010 Oct;49(10).967-8.
85. Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M. The face of Noonan syndrome. Does phenotype predict genotype. Am J Med Genet A. 2010 Aug;152A(8).1960-6.
86. Pierpont EI, Weismer SE, Roberts AE, Tworog-Dube E, Pierpont ME, Mendelsohn NJ, Seidenberg MS. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug;53(4).917-32. Epub 2010 Jun 11.
87. Ramaswamy PV, Storm CA, Filiano JJ, Dinulos JG. Multiple granular cell tumors in a child with Noonan syndrome. Pediatr Dermatol. 2010 Mar-Apr;27(2).209-11.
88. Lee WJ, Lee DW, Yang JH, Chang SE, Lee MW, Choi JH, Moon KC. Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome. Int J Dermatol. 2010 Feb;49(2).232-3.
89. Ahmadi F, Ahmadi M, Yaghmaei B, Nejat F, Rezaei N, Mamishi S. Candida albicans meningitis in an infant with Noonan syndrome. Braz J Infect Dis. 2009 Dec;13(6).452-3.
90. Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes Chromosomes Cancer. 2010 Jul;49(7).635-41.
91. Altamirano E, Drut R. Arrhythmogenic cardiomyopathy in a patient with Noonan syndrome. Fetal Pediatr Pathol. 2010;29(3).158-64.
92. Okazaki K, Unemoto J, Kondo M, Kusaka T, Kozawa K, Yoshizumi M, Shimada A, Takita J, Kaneko T, Hama T, Kimura H. Sustained cytokinemia and chemokinemia concomitant with juvenile myelomonocytic leukemia in an infant with Noonan syndrome. Leuk Res. 2010 Sep;34(9).e226-8. Epub 2010 Apr 24.
93. Aypar E, Atalay S, Tutar E, Demir F. Unusual cardiac phenotype in a newborn with noonan syndrome. Congenit Heart Dis. 2010 Mar-Apr;5(2).178-81.
94. Bufalino A, Carrera M, Carlos R, Coletta RD. Giant cell lesions in noonan syndrome. case report and review of the literature. Head Neck Pathol. 2010 Jun;4(2).174-7. Epub 2010 Apr 11. Review.
95. Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. Eur J Med Genet. 2010 May-Jun;53(3).117-21. Epub 2010 Mar 17.
96. Allanson JE, Roberts AE. Noonan Syndrome. 2001 Nov 15 [updated 2011 Aug 04]. In. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA). University of Washington, Seattle; 1993-. Available from http.//www.ncbi.nlm.nih.gov/books/NBK1124/
97. Hatemi AC, Gursoy M, Tongut A, Bicakhan B, Guzeltas A, Cetin G, Kansiz E. Pulmonary stenosis as a predisposing factor for infective endocarditis in a patient with Noonan syndrome. Tex Heart Inst J. 2010;37(1).99-101.
98. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior. cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar;152A(3).591-600.
99. Houweling AC, de Mooij YM, van der Burgt I, Yntema HG, Lachmeijer AM, Go AT. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. Prenat Diagn. 2010 Mar;30(3).284-6.
100. Zenker M. Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res. 2009 Dec;72 Suppl 2.57-63. Epub 2009 Dec 22. Review.
101. Binder G. Response to growth hormone in short children with Noonan syndrome. correlation to genotype. Horm Res. 2009 Dec;72 Suppl 2.52-6. Epub 2009 Dec 22.
102. Noordam C. Growth hormone and the heart in Noonan syndrome. Horm Res. 2009 Dec;72 Suppl 2.49-51. Epub 2009 Dec 22. Review.
103. Dahlgren J. GH therapy in Noonan syndrome. Review of final height data. Horm Res. 2009 Dec;72 Suppl 2.46-8. Epub 2009 Dec 22. Review.
104. Westphal O. Growth hormone therapy in Noonan syndrome. growth response and characteristics. Horm Res. 2009 Dec;72 Suppl 2.41-5. Epub 2009 Dec 22.
105. Ranke MB. Noonan syndrome. growth to growth hormone - the experience of observational studies. Horm Res. 2009 Dec;72 Suppl 2.36-40. Epub 2009 Dec 22.
106. Otten BJ, Noordam C. Growth in Noonan syndrome. Horm Res. 2009 Dec;72 Suppl 2.31-5. Epub 2009 Dec 22.
107. Kelnar CJ. Noonan syndrome. the hypothalamo-adrenal and hypothalamo-gonadal axes. Horm Res. 2009 Dec;72 Suppl 2.24-30. Epub 2009 Dec 22.
108. Wingbermuehle E, Egger J, van der Burgt I, Verhoeven W. Neuropsychological and behavioral aspects of Noonan syndrome. Horm Res. 2009 Dec;72 Suppl 2.15-23. Epub 2009 Dec 22.
109. Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res. 2009 Dec;72 Suppl 2.8-14. Epub 2009 Dec 22. Review.
110. Rohrer T. Noonan syndrome. introduction and basic clinical features. Horm Res. 2009 Dec;72 Suppl 2.3-7. Epub 2009 Dec 22.
111. González-Huerta NC, Valdés-Miranda JM, Pérez-Cabrera A, Pacheco-Cuellar G, González-Huerta LM, Cuevas-Covarrubias SA. Noonan syndrome. prenatal diagnosis in a woman carrying a PTPN11 gene mutation. J Matern Fetal Neonatal Med. 2010 Jul;23(7).688-91.
112. Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders. dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat. 2010 Mar;31(3).284-94.
113. Chen J, Yang Y, Tan Z, Wang Y, Tang X, Gong Y. [Noonan syndrome. a case report and literature review]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2009 Dec;34(12).1261-5. Review. Chinese.
114. Rani DS, Dhandapany PS, Nallari P, Govindaraj P, Singh L, Thangaraj K. Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. Mitochondrion. 2010 Mar;10(2).166-73. Epub 2009 Dec 16.
115. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1).27-9. Epub 2009 Dec 6.
116. Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010 Mar;49(3).242-52.
117. Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 Dec;149A(12).2723-30.
118. Chen CH, Chen TH, Kuo SJ, Chen CP, Lee DJ, Ke YY, Yeh KT, Ma GC, Liu CS, Shih JC, Chen M. Genetic evaluation and management of fetal chylothorax. review and insights from a case of Noonan syndrome. Lymphology. 2009 Sep;42(3).134-8. Review.
119. Dinopoulos A, Papadopoulou A, Manta P, Kekou K, Kanelopoulos T, Fretzayas A, Kitsiou S. Coinheritance of Noonan syndrome and Becker muscular dystrophy. Neuromuscul Disord. 2010 Jan;20(1).61-3. Epub 2009 Oct 28.
120. Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. Clin Genet. 2009 Dec;76(6).524-34. Epub 2009 Oct 21.
121. Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb;1802(2).275-83. Epub 2009 Oct 14.
122. Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol. 2010 Jan;31(1).114-6. Epub 2009 Oct 1.
123. Kerr NM, Vincent AL. The Novel Concurrence of Noonan Syndrome and Bilateral Duane-Like Synkinesis. J Pediatr Ophthalmol Strabismus. 2009 Oct 2.1-4. doi. 10.3928/01913913-20090918-07. [Epub ahead of print]
124. Graham JM Jr, Kramer N, Bejjani BA, Thiel CT, Carta C, Neri G, Tartaglia M, Zenker M. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. Am J Med Genet A. 2009 Oct;149A(10).2122-8.
125. Lo FS, Luo JD, Lee YJ, Shu SG, Kuo MT, Chiou CC. High resolution melting analysis for mutation detection for PTPN11 gene. applications of this method for diagnosis of Noonan syndrome. Clin Chim Acta. 2009 Nov;409(1-2).75-7. Epub 2009 Sep 6. Erratum in. Clin Chim Acta. 2010 Feb;411(3-4).297.
126. Nakamura T, Gulick J, Pratt R, Robbins J. Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36).15436-41. Epub 2009 Aug 24.
127. Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer. 2009 Dec;53(6).1147-9.
128. Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA. Abnormal growth in noonan syndrome. the challenge of optimal therapy. Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4.523-8. Review.
129. Nakayama M, Itou T, Abe T, Yamana T, Kawamura A, Yoshizumi T, Sunada M. [Noonan syndrome with atrial septal defect and hypertrophic cardiomyopathy]. Kyobu Geka. 2009 Jul;62(7).535-7. Japanese.
130. Emral ME, Akcam MO. Noonan syndrome. a case report. J Oral Sci. 2009 Jun;51(2).301-6.
131. Zhang W, Chan RJ, Chen H, Yang Z, He Y, Zhang X, Luo Y, Yin F, Moh A, Miller LC, Payne RM, Zhang ZY, Fu XY, Shou W. Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. J Biol Chem. 2009 Aug 14;284(33).22353-63. Epub 2009 Jun 9.
132. Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A. 2009 Jun;149A(6).1263-7.
133. Gupta A, Khaira A, Lal C, Mahajan S, Tiwari SC. Noonan syndrome. crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. Clin Exp Nephrol. 2009 Oct;13(5).531-2. Epub 2009 May 14.
134. Binder G. Noonan syndrome, the Ras-MAPK signalling pathway and short stature. Horm Res. 2009 Apr;71 Suppl 2.64-70. Epub 2009 Apr 29. Review.
135. Romano AA, Dana K, Bakker B, Davis DA, Hunold JJ, Jacobs J, Lippe B. Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone. J Clin Endocrinol Metab. 2009 Jul;94(7).2338-44. Epub 2009 Apr 28.
136. Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Am J Med Genet A. 2009 May;149A(5).1036-40.
137. Sumi M, Ohno Y, Sasaki R, Kondoh T, Tagawa M, Masuzaki H, Moriuchi H. Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications. Pediatr Int. 2009 Feb;51(1).138-40.
138. Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet. 2009 Oct;17(10).1216-21. Epub 2009 Apr 8.
139. Karsan SS, Karsan HA, Karsan AS, McMillen JI. A case of Noonan syndrome and Whipple's disease in the same patient. World J Gastroenterol. 2009 Mar 28;15(12).1524-7.
140. Scheiber C, Hirschfelder A, Gräbel S, Peters H, Olze H. Bilateral cochlear implantation in children with Noonan syndrome. Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6).889-94. Epub 2009 Mar 19.
141. Huang X, Fu Y, Charbeneau RA, Neubig RR. GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism. Med Hypotheses. 2009 Jul;73(1).56-9. Epub 2009 Mar 17.
142. Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. Noonan syndrome and related disorders. a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009;71(4).185-93. Epub 2009 Mar 4. Review.
143. Araki T, Chan G, Newbigging S, Morikawa L, Bronson RT, Neel BG. Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12).4736-41. Epub 2009 Feb 27.
144. Lisbona MP, Moreno M, Orellana C, Gratacos J, Larrosa M. Noonan syndrome associated with systemic lupus erythematosus. Lupus. 2009 Mar;18(3).267-9.
145. Marcus KA, Sweep CG, van der Burgt I, Noordam C. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab. 2008 Nov;21(11).1079-84.
146. Sherman CB, Ali-Nazir A, Gonzales-Gomez I, Finlay JL, Dhall G. Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome. a case report and review of the literature. J Pediatr Hematol Oncol. 2009 Jan;31(1).61-4.
147. Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. Acta Paediatr. 2009 Apr;98(4).693-8. Epub 2008 Dec 18.
148. Leye M, Calcagni G, Brunelle F, Bonnet D, Sidi D, Ou P. Coronary myocardial bridging in Noonan syndrome. definitive diagnosis with high-resolution CT. Br J Radiol. 2009 Jan;82(973).e8-10.
149. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr;8(3).275-82. Epub 2008 Dec 11.
150. Ko JM, Kim JM, Kim GH, Yoo HW. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet. 2008;53(11-12).999-1006. Epub 2008 Nov 20.
151. Krenz M, Gulick J, Osinska HE, Colbert MC, Molkentin JD, Robbins J. Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci U S A. 2008 Dec 2;105(48).18930-5. Epub 2008 Nov 18.
152. Wang S, Yu WM, Zhang W, McCrae KR, Neel BG, Qu CK. Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. J Biol Chem. 2009 Jan 9;284(2).913-20. Epub 2008 Nov 13.
153. Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP. Noonan syndrome caused by germline KRAS mutation in Taiwan. report of two patients and a review of the literature. Eur J Pediatr. 2009 Aug;168(8).919-23. Epub 2008 Oct 29. Review.
154. Mascheroni E, Digilio MC, Cortis E, Devito R, Sarkozy A, Capolino R, Dallapiccola B, Ugazio AG. Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. Am J Med Genet A. 2008 Nov 15;146A(22).2966-7.
155. Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2009 Apr;17(4).420-5. Epub 2008 Oct 15.
156. Singh H, Kalra R, Keshavamurthy GB, Singh M, Singh C. Percutaneous transluminal septal myocardial ablation in a child with hypertrophic obstructive cardiomyopathy and Noonan syndrome. Congenit Heart Dis. 2008 Sep-Oct;3(5).347-51.
157. Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA. [Noonan syndrome. from phenotype to growth hormone therapy]. Arq Bras Endocrinol Metabol. 2008 Jul;52(5).800-8. Review. Portuguese.
158. Dereure O. [New findings in Noonan syndrome and Leopard syndrome. activating mutations in RAF-1 and SOS-1]. Ann Dermatol Venereol. 2008 Aug-Sep;135(8-9).624-5. Epub 2008 Aug 8. French.
159. Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009 Feb;75(2).190-4. Epub 2008 Aug 26.
160. Lo FS, Kuo TT, Wang CJ, Kuo MT, Kuo MC. Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. Int J Hematol. 2008 Oct;88(3).287-90. Epub 2008 Aug 30.
161. Klapecki J, Obersztyn E, Łaniewski-Wołłk M, Szpecht-Potocka A, Mazurczak T. [Variability in clinical expression of Noonan syndrome--the report of two familial cases]. Wiad Lek. 2008;61(1-3).74-81. Polish.
162. Menon S, Pierpont ME, Driscoll D. Giant cell aortitis and Noonan syndrome. Congenit Heart Dis. 2008 Jul-Aug;3(4).291-4.
163. Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC. Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet. 2008 Nov-Dec;51(6).566-72. Epub 2008 Jul 17.
164. Padidela R, Camacho-Hübner C, Attie KM, Savage MO. Abnormal growth in noonan syndrome. genetic and endocrine features and optimal treatment. Horm Res. 2008;70(3).129-36. Epub 2008 Jul 29. Review.
165. Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet. 2008;53(9).834-41. Epub 2008 Jul 24.
166. Cavé H, Lachenaud J, Perez B, Verloes A, Chomienne C, Cassinat B. [From Noonan syndrome to juvenile myelomonocytic leukemia]. Arch Pediatr. 2008 Jun;15(5).812-3. French.
167. Sidwell RU, Rouse P, Owen RA, Green JS. Granular cell tumor of the scrotum in a child with Noonan syndrome. Pediatr Dermatol. 2008 May-Jun;25(3).341-3.
168. Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. Eur J Endocrinol. 2008 Sep;159(3).203-8. Epub 2008 Jun 18.
169. Raaijmakers R, Noordam C, Karagiannis G, Gregory JW, Hertel NT, Sipilä I, Otten BJ. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab. 2008 Mar;21(3).267-73.
170. Ortega Ade O, Guaré Rde O, Kawaji NS, Ciamponi AL. Orofacial aspects in Noonan syndrome. 2 case report. J Dent Child (Chic). 2008 Jan-Apr;75(1).85-90.
171. Cesur Aydin K, Ozcan I. Noonan syndrome. A review. Minerva Pediatr. 2008 Jun;60(3).343-6. Review.
172. Lavin VA, Hamid R, Patterson J, Alford C, Ho R, Yang E. Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. Pediatr Blood Cancer. 2008 Aug;51(2).298-302.
173. Serrano-Martín MM, Martínez-Aedo MJ, Tartaglia M, López-Siguero JP. [SOS1 mutation. a new cause of Noonan syndrome]. An Pediatr (Barc). 2008 Apr;68(4).365-8. Spanish.
174. Eminaga S, Bennett AM. Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. J Biol Chem. 2008 May 30;283(22).15328-38. Epub 2008 Mar 31.
175. Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. Am J Med Genet A. 2008 Apr 15;146A(8).1042-8.
176. Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. Clin Endocrinol (Oxf). 2008 Sep;69(3).426-31. Epub 2008 Mar 10.
177. Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genet Cytogenet. 2008 Apr 1;182(1).40-2.
178. Cheng MF, Wu YW, Tzen KY, Yen RF. Usefulness of lymphoscintigraphy in demonstrating lymphedema in patients with Noonan syndrome. Clin Nucl Med. 2008 Mar;33(3).226-7.
179. Raaijmakers R, Noordam C, Noonan JA, Croonen EA, van der Burgt CJ, Draaisma JM. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? Eur J Pediatr. 2008 Dec;167(12).1363-7. Epub 2008 Feb 13.
180. Yoshida R, Ogata T, Masawa N, Nagai T. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. Pediatr Blood Cancer. 2008 Jun;50(6).1274-6.
181. Noordam K. Expanding the genetic spectrum of Noonan syndrome. Horm Res. 2007;68 Suppl 5.24-7. Epub 2007 Dec 10. Review.
182. Spiliotis BE. Pediatric topic. expanding the spectrum of Noonan syndrome. Horm Res. 2007;68 Suppl 5.22-3. Epub 2007 Dec 10.
183. Croonen EA, van der Burgt I, Kapusta L, Draaisma JM. Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. Am J Med Genet A. 2008 Feb 1;146(3).350-3.
184. Douvoyiannis M, Belamarich PF, Litman N. Parotitis and kawasaki disease in a child with Noonan syndrome. Pediatr Infect Dis J. 2008 Jan;27(1).89-90.
185. Rasmussen KJ, Zador I, Zabel C, Krantz ID, Giampietro PF. Bile duct anomalies in a male child with Noonan syndrome. a case for ras and notch pathway synergism. Am J Med Genet A. 2008 Jan 15;146A(2).261-3.
186. Verhoeven W, Wingbermühle E, Egger J, Van der Burgt I, Tuinier S. Noonan syndrome. psychological and psychiatric aspects. Am J Med Genet A. 2008 Jan 15;146A(2).191-6.
187. Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG. SOS1 mutations are rare in human malignancies. implications for Noonan Syndrome patients. Genes Chromosomes Cancer. 2008 Mar;47(3).253-9.
188. Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N, Kanavakis E. Tumor development in three patients with Noonan syndrome. Eur J Pediatr. 2008 Sep;167(9).1025-31. Epub 2007 Dec 5.
189. Lloyd S. Supporting children with Noonan syndrome. Paediatr Nurs. 2007 Nov;19(9).41.
190. Asokan S, Muthu MS, Rathna Prabhu V. Noonan syndrome. a case report. J Indian Soc Pedod Prev Dent. 2007 Jul-Sep;25(3).144-7.
191. Macksey LF, White B. Anesthetic management in a pediatric patient with Noonan syndrome, mastocytosis, and von Willebrand disease. a case report. AANA J. 2007 Aug;75(4).261-4.
192. Lee ST, Ki CS, Lee HJ. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. Clin Genet. 2007 Aug;72(2).150-5.
193. Nakamura T, Colbert M, Krenz M, Molkentin JD, Hahn HS, Dorn GW 2nd, Robbins J. Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest. 2007 Aug;117(8).2123-32.
194. Sommer A. Photo essay--Noonan syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3).273.
195. Allanson JE. Noonan syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3).274-9. Review.
196. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8).1013-7. Epub 2007 Jul 1.
197. Walton-Betancourth S, Martinelli CE, Thalange NK, Dyke MP, Acerini CL, White S, Camacho-Hübner C, Savage MO. Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance. J Endocrinol Invest. 2007 May;30(5).439-41.
198. Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA. [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arq Bras Endocrinol Metabol. 2007 Apr;51(3).450-6. Portuguese.
199. Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cavé H, Verloes A. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics. 2007 Jun;119(6).e1325-31. Epub 2007 May 21.
200. Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M. Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. Am J Med Genet A. 2007 Jun 1;143A(11).1249-52.
201. Moschovi M, Touliatou V, Papadopoulou A, Mayakou MA, Nikolaidou-Karpathiou P, Kitsiou-Tzeli S. Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature. J Pediatr Hematol Oncol. 2007 May;29(5).341-4. Erratum in. J Pediatr Hematol Oncol. 2007 Jul;29(7).512. Vassiliki, Touliatou [corrected to Touliatou, Vassiliki]; Anna, Papadopoulou [corrected to Papadopoulou, Anna]; Maria-Alexandra, Mayakou [corrected to Mayakou, Maria-Alexandra]; Polyxeni, Nikolaidou-Karpathiou [corrected to Nikolaidou-Karpathiou, Polyxeni]; Sophia, Kitsiou-Tzeli [corrected to Kitsiou-Tzeli, Sophia].
202. Gauthier AS, Furstoss O, Araki T, Chan R, Neel BG, Kaplan DR, Miller FD. Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome. Neuron. 2007 Apr 19;54(2).245-62.
203. Bitton A, Keagle JN, Varma MG. Small bowel bezoar in a patient with Noonan syndrome. report of a case. MedGenMed. 2007 Feb 21;9(1).34.
204. Cheong JL, Moorkamp MH. Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. J Pediatr Hematol Oncol. 2007 Apr;29(4).262-4.
205. Piovesan EJ, Young Blood MR, Kowacs PA, Mulinari RA, Werneck LC, Sandrini R. Prevalence of migraine in Noonan syndrome. Cephalalgia. 2007 Apr;27(4).330-5.
206. Bekker MN, Go AT, van Vugt JM. Persistence of nuchal edema and distended jugular lymphatic sacs in Noonan syndrome. Fetal Diagn Ther. 2007;22(4).245-8. Epub 2007 Mar 16.
207. Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP. Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. Leukemia. 2007 Jun;21(6).1303-5. Epub 2007 Mar 15.
208. Hung CS, Lin JL, Lee YJ, Lin SP, Chao MC, Lo FS. Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J Formos Med Assoc. 2007 Feb;106(2).169-72.
209. La Starza R, Rosati R, Roti G, Gorello P, Bardi A, Crescenzi B, Pierini V, Calabrese O, Baens M, Folens C, Cools J, Marynen P, Martelli MF, Mecucci C, Cuneo A. A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. Leukemia. 2007 Apr;21(4).830-3. Epub 2007 Feb 15.
210. Qian JG, Wang XJ. Noonan syndrome and correction of the webbed neck. J Plast Reconstr Aesthet Surg. 2007;60(3).316-9. Epub 2006 Jun 5.
211. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2.4. Review.
212. Abadir S, Edouard T, Julia S. Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene. Cardiol Young. 2007 Feb;17(1).95-7. Epub 2006 Dec 22.
213. Noonan JA. Noonan syndrome and related disorders. alterations in growth and puberty. Rev Endocr Metab Disord. 2006 Dec;7(4).251-5. Review.
214. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1).70-4. Epub 2006 Dec 3.
215. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan;39(1).75-9. Epub 2006 Dec 13. Erratum in. Nat Genet. 2007 Feb;39(2).276.
216. Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A. 2006 Dec 15;140(24).2749-56.
217. Dhandapany PS, Sadayappan S, Vanniarajan A, Karthikeyan B, Nagaraj C, Gowrishankar K, Selvam GS, Singh L, Thangaraj K. Novel mitochondrial DNA mutations implicated in Noonan syndrome. Int J Cardiol. 2007 Aug 21;120(2).284-5. Epub 2006 Nov 7.
218. Schinkel AF, Vos J. Biventricular hypertropic obstructive cardiomyopathy in Noonan syndrome. Int J Cardiol. 2007 Jan 31;115(1).e22-3. Epub 2006 Oct 19.
219. Zenker M, Voss E, Reis A. Mild variable Noonan syndrome in a family with a novel PTPN11 mutation. Eur J Med Genet. 2007 Jan-Feb;50(1).43-7. Epub 2006 Sep 14.
220. Klapecki J, Obersztyn E, Laniewski-Wollk M, Szpecht-Potocka A, Mazurczak T. [Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2).289-308. Review. Polish.
221. Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test. 2006 Fall;10(3).186-91.
222. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome. a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2).128-32. Epub 2006 Sep 21.
223. Gelb BD, Tartaglia M. Noonan syndrome and related disorders. dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet. 2006 Oct 15;15 Spec No 2.R220-6. Review.
224. Elanko N, Jeffery S. Mutation analysis of PTPN11 in Noonan syndrome by WAVE. Methods Mol Med. 2006;126.97-111.
225. Patel AM, Kim JB, Roberts AE, Aragam J. Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct;14(5).e16-20.
226. Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M. Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle. 2006 Aug;5(15).1607-11. Epub 2006 Aug 1.
227. Pastor N, Betlloch I, Blanes M, Mataix J, Bañuls J, Belinchón I. Noonan syndrome and scrotal lymphedema. primary or secondary? Pediatr Dermatol. 2006 Jul-Aug;23(4).411-2.
228. Power PD, Lewin MB, Hannibal MC, Glass IA. Aortic root dilatation is a rare complication of Noonan syndrome. Pediatr Cardiol. 2006 Jul-Aug;27(4).478-80. Epub 2006 Jul 6.
229. Ogata T. [Noonan syndrome]. Nihon Rinsho. 2006 Jun 28;Suppl 2.505-10. Review. Japanese.
230. Kitsiou-Tzeli S, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A, Daskalopoulos D, Kanavakis E, Nicolaidou P. Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? Horm Res. 2006;66(3).124-31. Epub 2006 Jun 23.
231. Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet. 2006 Jul;79(1).129-35. Epub 2006 May 1.
232. Posligua L, McDonald DJ, Dehner LP. Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-Noonan syndrome. possibly more than a chance relationship. Am J Surg Pathol. 2006 Jun;30(6).734-8.
233. Suttor VP, Plit M, Krik E, Glanville A. Angiodysplasia and Noonan syndrome. a new association. Intern Med J. 2006 May;36(5).333-4.
234. Roti G, La Starza R, Ballanti S, Crescenzi B, Romoli S, Foá R, Tartaglia M, Aversa F, Fabrizio Martelli M, Mecucci C. Acute lymphoblastic leukaemia in Noonan syndrome. Br J Haematol. 2006 May;133(4).448-50.
235. Yalcin B, Tamer E, Gür G, Oztas P, Polat MU, Alli N. Neurofibromatosis 1/Noonan syndrome associated with Hashimoto's thyroiditis and vitiligo. Acta Derm Venereol. 2006;86(1).80-1. Erratum in. Acta Derm Venereol. 2007;87(3).286. Yalcçin, Başak [corrected to Yalcin, Başak].
236. Levaillant JM, Gérard-Blanluet M, Holder-Espinasse M, Valat-Rigot AS, Devisme L, Cavé H, Manouvrier-Hanu S. Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography. Prenat Diagn. 2006 Apr;26(4).340-4.
237. McBain J, Lemire EG, Campbell DC. Epidural labour analgesia in a parturient with Noonan syndrome. a case report. Can J Anaesth. 2006 Mar;53(3).274-8.
238. Takahashi I, Utsunomiya M, Inoue K, Takahashi T, Nozaki J, Wada Y, Takada G, Koizumi A. A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. Tohoku J Exp Med. 2006 Mar;208(3).255-9.
239. Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3).331-6. Epub 2006 Feb 12. Erratum in. Nat Genet. 2006 May;38(5).598.
240. Uhlén P, Burch PM, Zito CI, Estrada M, Ehrlich BE, Bennett AM. Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7).2160-5. Epub 2006 Feb 3.
241. Nakagawa M, Kinouchi K, Matsunami K, Ono R, Miyagawa Y, Ueda D, Kita T. [Anesthetic management of a child with Noonan syndrome and hypertrophic obstructive cardiomyopathy]. Masui. 2006 Jan;55(1).92-5. Japanese.
242. Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Hum Mol Genet. 2006 Feb 15;15(4).543-53. Epub 2006 Jan 6.
243. Elgohary MA, Bradshaw P, Ahmad N. Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. J Postgrad Med. 2005 Oct-Dec;51(4).319-21.
244. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6).1092-101. Epub 2005 Oct 26.
245. de Lange J, van der Akker HP. Noonan syndrome with giant cell lesions. Int J Paediatr Dent. 2006 Jan;16(1).69.
246. Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME. Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A. 2005 Dec 15;139(3).239-42.
247. Hudsmith LE, Petersen SE, Francis JM, Robson MD, Watkins H, Neubauer S. Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. Int J Cardiovasc Imaging. 2006 Jun-Aug;22(3-4).493-5. Epub 2005 Nov 3.
248. Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y. Noonan syndrome. relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006 Jan;91(1).300-6. Epub 2005 Nov 1.
249. Staudt JM, Van der Horst CM, Peters M, Melis P. Bleeding diathesis in Noonan syndrome. Scand J Plast Reconstr Surg Hand Surg. 2005;39(4).247-8.
250. Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr. 2005 Sep;94(9).1232-7.
251. Giovannini L, Cavé H, Ferrero-Vacher C, Boutte P, Sirvent N. A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome. Acta Paediatr. 2005 May;94(5).636-7.
252. Krenz M, Yutzey KE, Robbins J. Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. Circ Res. 2005 Oct 14;97(8).813-20. Epub 2005 Sep 15.
253. Tartaglia M, Gelb BD. Noonan syndrome and related disorders. genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005;6.45-68. Review.
254. Uçar T, Atalay S, Tekin M, Tutar E. Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome. Pediatr Cardiol. 2005 Nov-Dec;26(6).848-50.
255. Chantrain CF, Jijon P, De Raedt T, Vermylen C, Poirel HA, Legius E, Brichard B. Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. Pediatr Blood Cancer. 2007 Jan;48(1).101-4.
256. Gibson W, Trevenen C, Giuffre M, Leung AK. Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy. J Natl Med Assoc. 2005 Jun;97(6).805-7.
257. Schlüter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU. Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites. Prenat Diagn. 2005 Jul;25(7).574-6.
258. Binder G, Neuer K, Ranke MB, Wittekindt NE. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab. 2005 Sep;90(9).5377-81. Epub 2005 Jun 28.
259. Joó JG, Beke A, Tóth-Pál E, Csaba A, Papp C. Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops. a case report. J Reprod Med. 2005 May;50(5).373-6.
260. Kelnar CJ. The role of somatropin therapy in children with Noonan syndrome. Treat Endocrinol. 2003;2(3).165-72. Review.
261. Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab. 2005 Sep;90(9).5156-60. Epub 2005 Jun 14.
262. Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-Noonan syndrome. molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A. 2005 Jul 30;136(3).242-5.
263. Matsubara K, Yabe H, Ogata T, Yoshida R, Fukaya T. Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation. Am J Hematol. 2005 Jun;79(2).171-2.
264. Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005 Sep 15;106(6).2183-5. Epub 2005 May 31.
265. Takahashi K, Kogaki S, Kurotobi S, Nasuno S, Ohta M, Okabe H, Wada K, Sakai N, Taniike M, Ozono K. A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr. 2005 Aug;164(8).497-500. Epub 2005 May 12.
266. Ng CH, Singh B, Kang DS, Yeo JF, Fei YJ. Dental anaesthesia in a patient with Noonan syndrome. Br J Oral Maxillofac Surg. 2005 Jun;43(3).267-8.
267. Dereure O. [Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11]. Ann Dermatol Venereol. 2005 Apr;132(4).400. French.
268. Verma A. Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). Indian Pediatr. 2005 Apr;42(4).389.
269. Tofil NM, Winkler MK, Watts RG, Noonan J. The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding. Pediatr Crit Care Med. 2005 May;6(3).352-4.
270. Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y. Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet. 2005;50(4).192-202. Epub 2005 Apr 15.
271. Fox LP, Geyer AS, Anyane-Yeboa K, Garzon MC. Cutis verticis gyrata in a patient with Noonan syndrome. Pediatr Dermatol. 2005 Mar-Apr;22(2).142-6.
272. Lee SM, Cooper JC. Noonan syndrome with giant cell lesions. Int J Paediatr Dent. 2005 Mar;15(2).140-5.
273. Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I. Genotypic and phenotypic characterization of Noonan syndrome. new data and review of the literature. Am J Med Genet A. 2005 Apr 15;134A(2).165-70.
274. Edwards PC, Fox J, Fantasia JE, Goldberg J, Kelsch RD. Bilateral central giant cell granulomas of the mandible in an 8-year-old girl with Noonan syndrome (Noonan-like/multiple giant cell lesion syndrome). Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 Mar;99(3).334-40.
275. Pacilli M, Sebire NJ, Thambapillai E, Pierro A. Juvenile papillomatosis of the breast in a male infant with Noonan syndrome, café au lait spots, and family history of breast carcinoma. Pediatr Blood Cancer. 2005 Dec;45(7).991-3.
276. Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1).35-8.
277. Bottner F, Sandmann C, Semik M, Ramm O, Winkelmann W, Liljenqvist U. Chylothorax after surgery for thoracic deformity in Noonan syndrome. Orthopedics. 2005 Jan;28(1).71-3.
278. Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004 Dec 15;64(24).8816-20.
279. Jongmans M, Otten B, Noordam K, van der Burgt I. Genetics and variation in phenotype in Noonan syndrome. Horm Res. 2004;62 Suppl 3.56-9.
280. Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutreix BO, Parfait B. Noonan syndrome type I with PTPN11 3 bp deletion. structure-function implications. Proteins. 2005 Jan 1;58(1).7-13.
281. Yamashita Y, Kusaga A, Koga Y, Nagamitsu S, Matsuishi T. Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome. Pediatr Neurol. 2004 Nov;31(5).364-6.
282. Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. Eur J Hum Genet. 2004 Dec;12(12).1069-72.
283. Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A. 2004 Nov 1;130A(4).378-83.
284. Yazdizadeh M, Tapia JL, Baharvand M, Radfar L. A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Sep;98(3).316-20.
285. Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG. Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med. 2004 Aug;10(8).849-57. Epub 2004 Jul 25.
286. Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet. 2004 Sep;75(3).492-7. Epub 2004 Jul 9.
287. Bolko P, Wasko R, Waligórska J, Narozna J, Sowióski J. [Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1]. Ann Endocrinol (Paris). 2004 Apr;65(2).121-4. French.
288. Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Horikawa R, Tanaka T, Ogata T. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab. 2004 Jul;89(7).3359-64.
289. Reynolds DJ, Rubin SE, Fox J, Kodsi SR. Ocular manifestations of Noonan syndrome in the pediatric patient. J AAPOS. 2004 Jun;8(3).282-3.
290. Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. Am J Med Genet A. 2004 Jul 1;128A(1).63-6.
291. Alanay Y, Balci S, Ozen S. Noonan syndrome and systemic lupus erythematosus. presentation in childhood. Clin Dysmorphol. 2004 Jul;13(3).161-3.
292. Seeliger T, Voigt JU, Singer H, Daniel WG, Rupprecht H. Pulsating thoracic tumor caused by extragenital endometriosis in a patient with Noonan syndrome. Ann Thorac Surg. 2004 Jun;77(6).2204-6.
293. Weiss G, Confino Y, Shemer A, Trau H. Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. J Eur Acad Dermatol Venereol. 2004 May;18(3).324-7. Review.
294. Verhoeven WM, Hendrikx JL, MDoorakkers MC, Egger JI, Van der Burgt I, Tuinier S. Alexithymia in Noonan syndrome. Genet Couns. 2004;15(1).47-52.
295. Dineen RA, Lenthall RK. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome. a report of two cases and review of neurovascular presentations in this syndrome. Neuroradiology. 2004 Apr;46(4).301-5. Epub 2004 Mar 18.
296. Ogawa M, Moriya N, Ikeda H, Tanae A, Tanaka T, Ohyama K, Mori O, Yazawa T, Fujita K, Seino Y, Kubo T, Tanaka H, Nishi Y, Yoshimoto M. Clinical evaluation of recombinant human growth hormone in Noonan syndrome. Endocr J. 2004 Feb;51(1).61-8.
297. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Genotype-phenotype correlations in Noonan syndrome. J Pediatr. 2004 Mar;144(3).368-74.
298. Fragale A, Tartaglia M, Wu J, Gelb BD. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat. 2004 Mar;23(3).267-77.
299. Gandhi SV, Howarth ES, Krarup KC, Konje JC. Noonan syndrome presenting with transient cystic hygroma. J Obstet Gynaecol. 2004 Feb;24(2).183-4.
300. Saito A, Sekiguchi A, Chikada M, Tonari K. Noonan syndrome associated with anomalous coronary artery and other cardiac defects. Jpn J Thorac Cardiovasc Surg. 2004 Jan;52(1).18-20.
301. Eccles D, Meek D, Nwosu EC. Noonan syndrome. diagnostic difficulties. A case report and literature review. J Obstet Gynaecol. 2003 Nov;23(6).666-7. Review.
302. Holder-Espinasse M, Winter RM. Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? Clin Dysmorphol. 2003 Oct;12(4).275.
303. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome. Am J Med Genet A. 2003 Nov 15;123A(1).68-71.
304. Ogata T, Sato S, Hasegawa Y, Kosaki K. Lymphstasis in a boy with Noonan syndrome. implication for the development of skeletal features. Endocr J. 2003 Jun;50(3).319-24.
305. Okada M, Sasaki N, Kaihara Y, Okada R, Amano H, Miura K, Kozai K. Oral findings in Noonan syndrome. report of a case. J Oral Sci. 2003 Jun;45(2).117-21. Erratum in. J Oral Sci. 2003 Sep;45(3).following 180.
306. Tröger B, Kutsche K, Bolz H, Lüttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P. No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Am J Med Genet A. 2003 Aug 15;121A(1).82-4.
307. Schollen E, Matthijs G, Fryns JF. PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa. Genet Couns. 2003;14(2).259.
308. Carvalho DR, Alves VV, Minaré-Júnior A, Peres LC, Pina-Neto JM, Ramos ES. Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. Clin Dysmorphol. 2003 Apr;12(2).143-4.
309. Kulkarni ML, Ramesh D. Noonan syndrome. Indian Pediatr. 2003 May;40(5).431-2.
310. Horiguchi T, Takeshita K. Neuropsychological developmental change in a case with Noonan syndrome. longitudinal assessment. Brain Dev. 2003 Jun;25(4).291-3.
311. Bertola DR, Carneiro JD, D'Amico EA, Kim CA, Albano LM, Sugayama SM, Gonzalez CH. Hematological findings in Noonan syndrome. Rev Hosp Clin Fac Med Sao Paulo. 2003 Jan-Feb;58(1).5-8. Epub 2003 Apr 30.
312. Kondoh T, Ishii E, Aoki Y, Shimizu T, Zaitsu M, Matsubara Y, Moriuchi H. Noonan syndrome with leukaemoid reaction and overproduction of catecholamines. a case report. Eur J Pediatr. 2003 Jul;162(7-8).548-9. Epub 2003 May 9.
313. Noordam C, Thoonen G, van der Burgt CJ. [The Noonan syndrome from a pediatric perspective]. Ned Tijdschr Geneeskd. 2003 Apr 5;147(14).644-8. Review. Dutch.
314. Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May 15;119A(1).1-8.
315. Jung A, Bechthold S, Pfluger T, Renner C, Ehrt O. Orbital rhabdomyosarcoma in Noonan syndrome. J Pediatr Hematol Oncol. 2003 Apr;25(4).330-2. Review.
316. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2003 Feb;11(2).201-6. Erratum in. Eur J Hum Genet. 2003 Jul;11(7).551.
317. Barberia Leache E, Saavedra Ontiveros D, Maroto Edo M. Etiopathogenic analysis of the caries on three patients with Noonan Syndrome. Med Oral. 2003 Mar-Apr;8(2).136-42. English, Spanish.
318. Delhaas T, Mühler EG. Proximal left coronary artery occlusion in a 15-year-old boy with noonan syndrome and hypertrophic cardiomyopathy. Pediatr Cardiol. 2003 Jan-Feb;24(1).67-9.
319. Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet. 2003 Jan;11(1).85-8.
320. Chakraborty A. Noonan syndrome. a brief overview. Hosp Med. 2002 Dec;63(12).743-5. Review.
321. Amoroso A, Garzia P, Vadacca M, Galluzzo S, Del Porto F, Mitterhofer AP, Afeltra A. The unusual association of three autoimmune diseases in a patient with Noonan syndrome. J Adolesc Health. 2003 Jan;32(1).94-7.
322. Silvio F, Carlo L, Elena B, Nicoletta B, Daniela F, Roberto M. Transient abnormal myelopoiesis in Noonan syndrome. J Pediatr Hematol Oncol. 2002 Dec;24(9).763-4. Review.
323. Lemire EG. Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies. Am J Med Genet. 2002 Dec 1;113(3).286-90.
324. Rokicki W, Rokicka A. [Noonan syndrome coexisting with essential arterial hypertension in 8 year old boy]. Wiad Lek. 2002;55(7-8).488-93. Polish.
325. Prasad R, Singh K, Singh R. Bilateral congenital chylothorax with Noonan syndrome. Indian Pediatr. 2002 Oct;39(10).975-6.
326. Allanson J. The first Noonan syndrome gene. PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Pediatr Res. 2002 Oct;52(4).471.
327. Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. PTPN11 mutations in Noonan syndrome type I. detection of recurrent mutations in exons 3 and 13. Hum Mutat. 2002 Oct;20(4).298-304.
328. Wilms H, Neubauer B, Deuschl G, Zunker P. Cerebral occlusive artery disease in Noonan syndrome. Cerebrovasc Dis. 2002;14(2).133-5.
329. Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab. 2002 Aug;87(8).3529-33.
330. Saenger P. Editorial. Noonan syndrome--certitude replaces conjecture. J Clin Endocrinol Metab. 2002 Aug;87(8).3527-8. Review.
331. Zanchetta M, Colonna S, Rigatelli G, Pedon L, Zennaro M, Onorato E, Maiolino P. Combined catheter-based pulmonary valvuloplasty and atrial septal defect closure in Noonan syndrome. A case report and literature review. Minerva Cardioangiol. 2002 Aug;50(4).383-8. Review.
332. Witters I, Spitz B, Van Hole C, Devriendt K, Fryns JP, Verbek K. Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. Am J Med Genet. 2002 Jul 15;110(4).408-9.
333. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome. molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002 Jun;70(6).1555-63. Epub 2002 May 1.
334. Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Ultrasound Obstet Gynecol. 2002 Jan;19(1).51-5. Review.
335. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001 Dec;29(4).465-8. Erratum in. Nat Genet 2002 Jan;30(1).123. Nat Genet 2001 Dec;29(4).491.
336. Nirmal T, Muthu MS, Arranganal P. Noonan syndrome. a case report. J Indian Soc Pedod Prev Dent. 2001 Jun;19(2).77-9.
337. Lee CK, Chang BS, Hong YM, Yang SW, Lee CS, Seo JB. Spinal deformities in Noonan syndrome. a clinical review of sixty cases. J Bone Joint Surg Am. 2001 Oct;83-A(10).1495-502.
338. Narahara K. [Noonan syndrome]. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2).323-5. Review. Japanese.
339. Colli R, Colombo P, Russo F, Sterpa A. [Type 1 Arnold Chiari malformation in a subject with Noonan syndrome]. Pediatr Med Chir. 2001 Jan-Feb;23(1).61-4. Italian.
340. Martin DM, Gencyuz CF, Petty EM. Systemic lupus erythematosus in a man with Noonan syndrome. Am J Med Genet. 2001 Jul 22;102(1).59-62.
341. Miura M, Sando I, Orita Y, Hirsch BE. Temporal bone histopathological study of Noonan syndrome. Int J Pediatr Otorhinolaryngol. 2001 Jul 30;60(1).73-82.
342. Güleç AT, Karaduman A, Seçkin D. Noonan syndrome. a case with recurrent keloid formation. Cutis. 2001 Apr;67(4).315-6.
343. Kirk JM, Betts PR, Butler GE, Donaldson MD, Dunger DB, Johnston DI, Kelnar CJ, Price DA, Wilton P, Group tU. Short stature in Noonan syndrome. response to growth hormone therapy. Arch Dis Child. 2001 May;84(5).440-3.
344. Digilio M, Marino B. Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol. 2001 Apr;3(2).19-30.
345. Hayashi S, Tojyo K, Uchikawa S, Momose T, Misawa T, Yazaki Y, Kinoshita O, Hongo M, Kubo K, Imamura H. Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult. Jpn Circ J. 2001 Feb;65(2).132-5.
346. Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. J Med Genet. 2000 Nov;37(11).884-6.
347. Bertola DR, Kim CA, Pereira AC, Mota GF, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhães RP, Gonzalez CH. Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities? Am J Med Genet. 2001 Jan 22;98(3).230-4.
348. Hill V, Griffiths W, Kerr-Muir M, Hardman-Lea S. Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. Clin Exp Dermatol. 2000 Nov;25(8).611-4.
349. Noordam C, van der Burgt I, Sweep CG, Delemarre-van de Waal HA, Sengers RC, Otten BJ. Growth hormone (GH) secretion in children with Noonan syndrome. frequently abnormal without consequences for growth or response to GH treatment. Clin Endocrinol (Oxf). 2001 Jan;54(1).53-9.
350. Lee L, Dowhanick-Morrissette J, Katz A, Jukofsky L, Krantz ID. Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene. Hum Genet. 2000 Dec;107(6).577-81.
351. Sarimski K. Developmental and behavioural phenotype in Noonan syndrome? Genet Couns. 2000;11(4).383-90.
352. Tsang HY, Cheung YF, Leung MP, Chau KT. Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome. Catheter Cardiovasc Interv. 2000 Dec;51(4).441-3.
353. Suzuki Y. [Noonan syndrome]. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5).218-9. Review. Japanese.
354. Lohmann DR, Gillessen-Kaesbach G. Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome. Clin Dysmorphol. 2000 Oct;9(4).301-2.
355. Kenmochi N, Yoshihama M, Higa S, Tanaka T. The human ribosomal protein L6 gene in a critical region for Noonan syndrome. J Hum Genet. 2000;45(5).290-3.
356. Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, Bharucha BA. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. J Postgrad Med. 2000 Apr-Jun;46(2).98-100.
357. Tramboo NA, Iqbal K, Malik AR, Naikoo BA, Dar MA. Acute rheumatic fever in Noonan syndrome. Indian J Pediatr. 2000 Aug;67(8).605-7.
358. van Der Burgt I, Brunner H. Genetic heterogeneity in Noonan syndrome. evidence for an autosomal recessive form. Am J Med Genet. 2000 Sep 4;94(1).46-51.
359. Harsch IA, Hanke B, Wiest GH, Hahn EG, Ficker JH. [Dyspnea and abdominal pain in a woman with pericardial tumor. a rare complication of the Noonan syndrome]. Med Klin (Munich). 2000 Jul 15;95(7).413-4. German.
360. Cullimore AJ, Smedstad KG, Brennan BG. Pregnancy in women with Noonan syndrome. report of two cases. Obstet Gynecol. 1999 May;93(5 Pt 2).813-6.
361. Oztürk S, Cefle K, Palanduz S, Erten NB, Karan MA, Tasçioglu C, Umman S, Falay O, Vatansever S, Güler K, Cantez S. A case of Noonan syndrome with pulmonary and abdominal lymphangiectasia. Int J Clin Pract. 2000 May;54(4).274-6.
362. Tang KT, Yang W, Wong J, Lee KY. Noonan syndrome associated with moyamoya disease. report of one case. Acta Paediatr Taiwan. 1999 Jul-Aug;40(4).274-6.
363. Kelnar CJ. Growth hormone therapy in noonan syndrome. Horm Res. 2000;53 Suppl 1.77-81. Review.
364. Nomura Y, Yanagi S, Kono Y, Kamimura J, Nishi J, Yoshinaga M, Miyata K. Bilateral coronary artery dilatation in a child with Noonan syndrome. Jpn Circ J. 2000 Jun;64(6).481-3.
365. Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. Noonan syndrome. a cryptic condition in early gestation. Am J Med Genet. 2000 May 29;92(3).159-65.
366. Butler MG, Kumar R, Davis MF, Gale DD, Dahir GA, Meaney FJ. Metacarpophalangeal pattern profile analysis in Noonan syndrome. Am J Med Genet. 2000 May 15;92(2).128-31.
367. Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. Noonan syndrome. a clinical and genetic study of 31 patients. Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5).147-50.
368. Manasia G, Duranti C, Bencivinni F, Manfrè L. [The Noonan syndrome and malformation of the inner ear. A case study by the steady-state MR technic]. Radiol Med. 1999 Nov;98(5).407-9. Review. Italian.
369. Soliman AT, Rajab A, el Zalabany M, alSalmi I, Fattah MA. Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome. Indian J Pediatr. 1998 Sep-Oct;65(5).741-9.
370. Callahan MP, Pham T, Rashbaum I, Pineda H, Greenspan N. Cardiopulmonary rehabilitation in a patient with Noonan syndrome. Arch Phys Med Rehabil. 2000 Feb;81(2).230-2.
371. Español I, Vendrell T, Mora J, Pujol-Moix N. [Noonan syndrome with thrombocytopenia secondary to hypersplenism]. Sangre (Barc). 1999 Oct;44(5).387. Spanish.
372. Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol. 1999 Nov-Dec;21(6).523-7. Review.
373. Noonan J. Noonan syndrome--then and now. Cardiol Young. 1999 Nov;9(6).545-6.
374. van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, Brunner HG. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr. 1999 Dec;135(6).707-13.
375. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart diseases in children with Noonan syndrome. An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr. 1999 Dec;135(6).703-6.
376. Noonan JA. Noonan syndrome revisited. J Pediatr. 1999 Dec;135(6).667-8.
377. Huang HC, Wang TJ, Huang CB. Noonan syndrome presented with cystic hygroma and chylothorax. case report. Changgeng Yi Xue Za Zhi. 1999 Jun;22(2).313-8.
378. Nisbet DL, Griffin DR, Chitty LS. Prenatal features of Noonan syndrome. Prenat Diagn. 1999 Jul;19(7).642-7.
379. Arnold RW, Janis B, Wellman S, Crouch E, Rosen C. Palinopsia with bacterial brain abscess and Noonan syndrome. Alaska Med. 1999 Jan-Mar;41(1).3-7.
380. Tanaka Y, Masuno M, Iwamoto H, Aida N, Ijiri R, Yamanaka S, Imaizumi K, Kuroki Y. Noonan syndrome and cavernous hemangioma of the brain. Am J Med Genet. 1999 Jan 29;82(3).212-4.
381. Klopfenstein KJ, Sommer A, Ruymann FB. Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia. a report of two cases. J Pediatr Hematol Oncol. 1999 Mar-Apr;21(2).158-60.
382. Cianfarani S. Growth hormone therapy in Noonan syndrome. J Pediatr. 1999 Mar;134(3).385-6.
383. Yoshihara K, Ozawa T, Sakuragawa H, Fujii T, Kawasaki M, Shiono N, Watanabe Y, Koyama N, Mastuura Y, Saji T, Takanashi Y. [Noonan syndrome associated with atrial septal defect, pulmonary stenosis, and completely unroofed coronary sinus without LSVC. a case report]. Kyobu Geka. 1999 Feb;52(2).134-7. Japanese.
384. Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B. Noonan syndrome and aortic coarctation. Am J Med Genet. 1998 Nov 2;80(2).160-2.
385. Limal JM, Bonnet D, Bouc YL, Leheup B, Lyonnet S. [Noonan syndrome. an enigma]. Arch Pediatr. 1998 Jul;5(7).715-8. Review. French.
386. Ogata T, Muroya K, Tsukahara M. Noonan syndrome. genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. Am J Med Genet. 1998 Sep 1;79(2).153-4.
387. Riederer J. ["Benign" monoclonal gammopathy and chronic lymphatic leukemia in a patient with Noonan syndrome]. Med Klin (Munich). 1998 Jul 15;93(7).433-7. German.
388. Uçar B, Okten A, Mocan H, Erçin C. Noonan syndrome associated with central giant cell granuloma. Clin Genet. 1998 May;53(5).411-4.
389. Silburn PA, Nicholson GA, Teh BT, Blair IP, Pollard JD, Nolan PJ, Larsson C, Boyle RS. Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy. Neurology. 1998 Apr;50(4).1067-73.
390. Fryns JP, Moerman P. Trisomy 21 in a second trimester male hydropic fetus with "Noonan-syndrome-phenotype". nuchal and thoracic lymphangiomatosis, oedema of the dorsum of hands and feet, and bicuspid pulmonary valve. Genet Couns. 1998;9(1).59-60.
391. Qiu WW, Yin SS, Stucker FJ. Audiologic manifestations of Noonan syndrome. Otolaryngol Head Neck Surg. 1998 Mar;118(3 Pt 1).319-23.
392. Tonoki H, Saitoh S, Kobayashi K. Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. Am J Med Genet. 1998 Feb 3;75(4).416-8.
393. Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. Am J Med Genet. 1998 Jan 23;75(3).265-72.
394. Carey JC. Neurofibromatosis-Noonan syndrome. Am J Med Genet. 1998 Jan 23;75(3).263-4. Review.
395. Wilcox WD. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. 1998 Jan;132(1).189-90.
396. Yellon RF. Complications following airway surgery in Noonan syndrome. Arch Otolaryngol Head Neck Surg. 1997 Dec;123(12).1341-3.
397. Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S. Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12. Eur J Hum Genet. 1997 Sep-Oct;5(5).336-7.
398. Saito Y, Sasaki M, Hanaoka S, Sugai K, Hashimoto T. A case of Noonan syndrome with cortical dysplasia. Pediatr Neurol. 1997 Oct;17(3).266-9.
399. Fryns JP. Progressive hydrocephalus in Noonan syndrome. Clin Dysmorphol. 1997 Oct;6(4).379.
400. De Schepper J, Otten BJ, François I, Bourguignon JP, Craen M, Van der Burgt I, Massa GG. Growth hormone therapy in pre-pubertal children with Noonan syndrome. first year growth response and comparison with Turner syndrome. Acta Paediatr. 1997 Sep;86(9).943-6.
401. Robertson S, Tsang B, Aftimos S. Cerebral infarction in Noonan syndrome. Am J Med Genet. 1997 Jul 11;71(1).111-4.
402. Bader-Meunier B, Tchernia G, Miélot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. 1997 Jun;130(6).885-9.
403. Side LE, Shannon KM. Myeloid disorders in infants with Noonan syndrome and a resident's "rule" recalled. J Pediatr. 1997 Jun;130(6).857-9.
404. Ganesan V, Kirkham FJ. Noonan syndrome and moyamoya. Pediatr Neurol. 1997 Apr;16(3).256-8.
405. Lopez-Miranda B, Westra SJ, Yazdani S, Boechat MI. Noonan syndrome associated with neuroblastoma. a case report. Pediatr Radiol. 1997 Apr;27(4).324-6.
406. Fukuda M, Horibe K, Miyajima Y, Matsumoto K, Nagashima M. Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. J Pediatr Hematol Oncol. 1997 Mar-Apr;19(2).177-9.
407. Singer ST, Hurst D, Addiego JE Jr. Bleeding disorders in Noonan syndrome. three case reports and review of the literature. J Pediatr Hematol Oncol. 1997 Mar-Apr;19(2).130-4.
408. Au YK, Collins WP, Patel JS, Asamoah A. Spontaneous corneal rupture in Noonan syndrome. A case report. Ophthalmic Genet. 1997 Mar;18(1).39-41.
409. Wilmshurst P. Probable right ventricular dysplasia and patent foramen ovale presenting with cyanosis and clubbing in a patient with characteristics of Noonan syndrome. Heart. 1997 Mar;77(3).294.
410. Naficy S, Shepard NT, Telian SA. Multiple temporal bone anomalies associated with Noonan syndrome. Otolaryngol Head Neck Surg. 1997 Feb;116(2).265-7.
411. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet. 1997 Feb;99(2).289.
412. Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. Am J Med Genet. 1996 Dec 18;66(3).347-55.
413. Cornish KM. Verbal-performance discrepancies in a family with Noonan syndrome. Am J Med Genet. 1996 Dec 11;66(2).235-6.
414. Lorenzetti ME, Fryns JP. Retinitis pigmentosa in a young man with Noonan syndrome. further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet. 1996 Oct 16;65(2).97-9. Review.
415. Massarano AA, Wood A, Tait RC, Stevens R, Super M. Noonan syndrome. coagulation and clinical aspects. Acta Paediatr. 1996 Oct;85(10).1181-5.
416. Yadav BS, Indurkar M, Bisarya BN. Normal pregnancy in a case of Noonan syndrome with hypertrophic cardiomyopathy. J Assoc Physicians India. 1996 Jul;44(7).494-5.
417. Marino B, Digilio MC, Gagliardi MG, Giannotti A, Dallapiccola B. Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. Pediatr Cardiol. 1996 Jul-Aug;17(4).278.
418. Ozkutlu S, Cil E, Paşaoğlu I, Saraçlar M. Noonan syndrome with double-chambered right ventricle. Pediatr Cardiol. 1996 Jul-Aug;17(4).251-3.
419. Meyer WR, Dotters DJ. Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. Obstet Gynecol. 1996 May;87(5 Pt 2).863-5.
420. Romano AA, Blethen SL, Dana K, Noto RA. Growth hormone treatment in Noonan syndrome. the National Cooperative Growth Study experience. J Pediatr. 1996 May;128(5 Pt 2).S18-21.
421. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot. Am J Med Genet. 1996 Apr 24;62(4).413-4.
422. Tanaka T. Growth hormone treatment in Noonan syndrome. Acta Paediatr Jpn. 1996 Feb;38(1).99-101.
423. Nishikawa T, Ishiyama S, Shimojo T, Takeda K, Kasajima T, Momma K. Hypertrophic cardiomyopathy in Noonan syndrome. Acta Paediatr Jpn. 1996 Feb;38(1).91-8.
424. Ishizawa A, Oho S, Dodo H, Katori T, Homma SI. Cardiovascular abnormalities in Noonan syndrome. the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1).84-90.
425. Noonan J, O'Connor W. Noonan syndrome. a clinical description emphasizing the cardiac findings. Acta Paediatr Jpn. 1996 Feb;38(1).76-83. Review.
426. Fukushima Y. Noonan syndrome and its related disorders. Acta Paediatr Jpn. 1996 Feb;38(1).102-4. Review.
427. Aranguren G, García-Miñaur S, Loridan L, Uribarren A, Martín Vargas L, Rodríguez-Soriano J. Multiple-marker screen positive results in Noonan syndrome. Prenat Diagn. 1996 Feb;16(2).183-4.
428. Wettrell G, Tollig H. [A woman behind the Noonan syndrome. She described a hereditary disease in children with congenital heart defects]. Lakartidningen. 1996 Jan 31;93(5).382-5. Swedish.
429. Portmann D, Herman D, Rodrigues E. [ORL involvement and Noonan syndrome]. Rev Laryngol Otol Rhinol (Bord). 1996;117(3).233-6. Review. French.
430. Fujisawa K. [Saldino-Noonan syndrome (short rib polydactyly syndrome type I)]. Ryoikibetsu Shokogun Shirizu. 1996;(15).297-9. Review. Japanese.
431. Matsuo K. [Noonan syndrome]. Ryoikibetsu Shokogun Shirizu. 1996;(15).284-6. Review. Japanese.
432. Leichtman LG. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Clin Dysmorphol. 1996 Jan;5(1).61-4.
433. Wilmshurst PT, Katritsis D. Restrictive and hypertrophic cardiomyopathies in Noonan syndrome. the overlap syndromes. Heart. 1996 Jan;75(1).94-7.
434. Marino B, Gagliardi MG, Digilio MC, Polletta B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B. Noonan syndrome. structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr. 1995 Dec;154(12).949-52.
435. Perlemuter G, Venencie PY, Baussan C, Bernard O, Bedossa P, Buffet C. [Hepatomegaly revealing Noonan syndrome without cardiac malformation]. Gastroenterol Clin Biol. 1995 Dec;19(12).1065-6. French.
436. Lin YM, Huang WL, Hwang JJ, Ko YL, Lien WP. Swyer-James syndrome associated with Noonan syndrome. report of a case. J Formos Med Assoc. 1995 Dec;94(12).742-5.
437. Cotton JL, Williams RG. Noonan syndrome and neuroblastoma. Arch Pediatr Adolesc Med. 1995 Nov;149(11).1280-1.
438. Krajewska-Walasek M. [Noonan syndrome in clinical practice]. Pediatr Pol. 1995 Oct;70(10).809-17. Polish.
439. Wilmshurst P, Da Costa P. Probable right ventricular dysplasia and patent foramen ovale presenting with cyanosis and clubbing in a patient with characteristics of Noonan syndrome. Br Heart J. 1995 Oct;74(4).471-5.
440. Khan S, McDowell H, Upadhyaya M, Fryer A. Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet. 1995 Sep;32(9).743-5.
441. Buehning L, Curry CJ. Neurofibromatosis-Noonan syndrome. Pediatr Dermatol. 1995 Sep;12(3).267-71.
442. Sailer M, Unsinn K, Fink C, Covi B, Gassner I. [Pulmonary lymphangiectasis with spontaneous chylothorax in Noonan syndrome]. Klin Padiatr. 1995 Sep-Oct;207(5).302-4. German.
443. Kişlaoglu E, Yüksel F. Ullrich-Noonan syndrome. Plast Reconstr Surg. 1995 Aug;96(2).485-8.
444. Ahlbom BE, Dahl N, Zetterqvist P, Annerén G. Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. Clin Genet. 1995 Aug;48(2).85-9.
445. Daoud MS, Dahl PR, Su WP. Noonan syndrome. Semin Dermatol. 1995 Jun;14(2).140-4.
446. Hinnant CA. Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities. Am J Med Genet. 1995 Mar 27;56(2).241-4.
447. Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet. 1995 Mar 13;56(1).94-6.
448. Kasturi L, Kulkarni AV, Mashankar VA, Desai UA. Familial Noonan syndrome. Indian Pediatr. 1995 Mar;32(3).362-5.
449. Feit LR, Hansen K, Oyer CE, Werner JC. Unusual combination of congenital heart defects in an infant with Noonan syndrome. Pediatr Cardiol. 1995 Mar-Apr;16(2).95-9.
450. Municchi G, Pasquino AM, Pucarelli I, Cianfarani S, Passeri F. Growth hormone treatment in Noonan syndrome. report of four cases who reached final height. Horm Res. 1995;44(4).164-7.
451. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet. 1994 Dec;8(4).357-60.
452. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet. 1994 Nov 1;53(2).187-91.
453. Noonan JA. Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr (Phila). 1994 Sep;33(9).548-55. Review.
454. Ward KA, Moss C, McKeown C. The cardio-facio-cutaneous syndrome. a manifestation of the Noonan syndrome? Br J Dermatol. 1994 Aug;131(2).270-4.
455. Ram SP, Krishna TN. Cardiopathy and ocular abnormalities in Noonan syndrome. Singapore Med J. 1994 Aug;35(4).397-9.
456. Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA. Genital tract function in men with Noonan syndrome. J Med Genet. 1994 Jun;31(6).468-70.
457. Takeda Y, Suzuki Y, Mishima A, Narita Y, Yamanaka Y, Yoshitomi H. [Cooley operation for hypertrophic obstructive cardiomyopathy associated with Noonan Syndrome following Morrow operation--a case report]. Nihon Kyobu Geka Gakkai Zasshi. 1994 Apr;42(4).574-9. Japanese.
458. Ghaziuddin M, Bolyard B, Alessi N. Autistic disorder in Noonan syndrome. J Intellect Disabil Res. 1994 Feb;38 ( Pt 1).67-72.
459. Katz VL, Kort B, Watson WJ. Progression of nonimmune hydrops in a fetus with Noonan syndrome. Am J Perinatol. 1993 Nov;10(6).417-8.
460. Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Cardiologic abnormalities in Noonan syndrome. phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993 Oct;22(4).1189-92.
461. de Toni T, Arioni C, Traverso A, Gastaldi R, Vianello MG. [Nosologic evaluation of Noonan syndrome and description of nine cases]. Minerva Pediatr. 1993 Sep;45(9).347-56. Review. Italian.
462. Meschede D, Froster UG, Gullotta F, Nieschlag E. Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. Am J Med Genet. 1993 Sep 1;47(3).346-51.
463. Flintoff WF, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marçon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M. No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. Am J Med Genet. 1993 Jul 1;46(6).700-5.
464. Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet. 1993 Jul;53(1).90-5.
465. O'Sullivan T, Hally M, Cronin CC, Bashyam M, Mitchell TH. Constrictive pericarditis simulating intestinal lymphangiectasia in a patient with the Noonan syndrome. Ir J Med Sci. 1993 May;162(5).180-1.
466. Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation. Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5).425-6.
467. Fryer A. Odontogenic keratocysts do not occur in Noonan syndrome. Clin Dysmorphol. 1993 Apr;2(2).185-6.
468. Sharland M, Morgan M, Smith G, Burch M, Patton MA. Genetic counselling in Noonan syndrome. Am J Med Genet. 1993 Feb 15;45(4).437-40.
469. Sharland M, Morgan M, Patton MA. Photoanthropometric study of facial growth in Noonan syndrome. Am J Med Genet. 1993 Feb 15;45(4).430-6.
470. Piombo M, Rosanda C, Pasino M, Marasini M, Cerruti P, Comelli A. Acute lymphoblastic leukemia in Noonan syndrome. report of two cases. Med Pediatr Oncol. 1993;21(6).454-5.
471. George CD, Patton MA, el Sawi M, Sharland M, Adam EJ. Abdominal ultrasound in Noonan syndrome. a study of 44 patients. Pediatr Radiol. 1993;23(4).316-8.
472. Masson P, Fayon M, Lamireau T, Llanas B, Lacombe D, Taïeb A, Demarquez JL. [Unusual form of Noonan syndrome. neonatal multi-organ involvement with chylothorax and nevoid Cutis verticis gyrata]. Pediatrie. 1993;48(1).59-62. French.
473. Chery M, Philippe C, Worms AM, Gilgenkrantz S. The Noonan syndrome. The Nancy experience revisited. Genet Couns. 1993;4(2).113-8.
474. Bouloc A, Lemerrer M, Blanchet-Bardon C. [The neurofibromatosis-Noonan syndrome. 4 cases]. Ann Dermatol Venereol. 1993;120(11).763-5. French.
475. Takano T. [Noonan syndrome]. Ryoikibetsu Shokogun Shirizu. 1993;(1).802-4. Review. Japanese.
476. Burch M, Mann JM, Sharland M, Shinebourne EA, Patton MA, McKenna WJ. Myocardial disarray in Noonan syndrome. Br Heart J. 1992 Dec;68(6).586-8.
477. Goens MB, Campbell D, Wiggins JW. Spontaneous chylothorax in Noonan syndrome. Treatment with prednisone. Am J Dis Child. 1992 Dec;146(12).1453-6. Review.
478. Ohashi H, Okuno T, Mizuo T. [A case of Noonan syndrome with neurogenic bladder]. Nihon Hinyokika Gakkai Zasshi. 1992 Nov;83(11).1902-5. Japanese.
479. Tanaka K, Sato A, Naito T, Kuramochi K, Itabashi H, Takemura Y. Noonan syndrome presenting growth hormone neurosecretory dysfunction. Intern Med. 1992 Jul;31(7).908-11.
480. Sharland M, Taylor R, Patton MA, Jeffery S. Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. J Med Genet. 1992 Mar;29(3).188-90.
481. Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF. Clinical variability of type 1 neurofibromatosis. is there a neurofibromatosis-Noonan syndrome? J Med Genet. 1992 Mar;29(3).184-7.
482. Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome. Arch Dis Child. 1992 Feb;67(2).178-83.
483. Cremers CW, van der Burgt CJ. Hearing loss in Noonan syndrome. Int J Pediatr Otorhinolaryngol. 1992 Jan;23(1).81-4. Review.
484. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye (Lond). 1992;6 ( Pt 3).328-34.
485. Lacombe D. [Apropos of the etiopathogenesis of Noonan syndrome]. Pediatrie. 1992;47(2).163-4. French.
486. Pongratz G, Friedrich M, Unverdorben M, Kunkel B, Bachmann K. Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome). Klin Wochenschr. 1991 Dec 11;69(20).932-6.
487. Levine B, Skope L, Parker R. Cherubism in a patient with Noonan syndrome. report of a case. J Oral Maxillofac Surg. 1991 Sep;49(9).1014-8.
488. Mishra OP, Mohanty C, Kumar M, Bhatia BD, Singh M, Bhargava V. Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). Indian Pediatr. 1991 Sep;28(9).1063-5.
489. Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ. Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. Am J Med Genet. 1991 Jun 15;39(4).461-5.
490. Fryer AE, Holt PJ, Hughes HE. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome. are they the same? Am J Med Genet. 1991 Mar 15;38(4).548-51.
491. Evans DG, Lonsdale RN, Patton MA. Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome. Clin Genet. 1991 Mar;39(3).228-32.
492. Blanchet-Bardon C, Puppin D Jr, Fischer R, Dubertret L. [CFC syndrome in mother and daughter. a syndrome distinct from Noonan syndrome]. Ann Dermatol Venereol. 1991;118(11).778-80. French.
493. Lacombe D, Taieb A, Masson P, Fayon M, Demarquez JL. Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp. Genet Couns. 1991;2(4).249-53.
494. Paupe A, Chassevent J, Lenclen R, Blanc P, Carbajal R, Hoenn E, Olivier-Martin M. [Hydrops fetalis associated with Noonan syndrome]. Pediatrie. 1991;46(11).731-4. French.
495. Snell JA, Mallory SB. Ulerythema ophryogenes in Noonan syndrome. Pediatr Dermatol. 1990 Mar;7(1).77-8.
496. Noda H, Mori F, Miyamoto M, Tsuboi H, Esato K, Kondo O. [Noonan syndrome associated with atrial septal defect, ventricular septal defect and pulmonary stenosis--a case report]. Nihon Kyobu Geka Gakkai Zasshi. 1990 Feb;38(2).280-3. Japanese.
497. Romanenko VA, Savinkova SD, Kriukova FO. [Noonan syndrome]. Pediatriia. 1990;(8).91-3. Russian.
498. Chan DK, Ho NK. Noonan syndrome with spontaneous chylothorax at birth. Aust Paediatr J. 1989 Oct;25(5).296-8.
499. Tinker A, Uren N, Schofield J. Severe pulmonary hypertension in Ullrich-Noonan syndrome. Br Heart J. 1989 Jul;62(1).74-7.
500. Dunlap C, Neville B, Vickers RA, O'Neil D, Barker B. The Noonan syndrome/cherubism association. Oral Surg Oral Med Oral Pathol. 1989 Jun;67(6).698-705.
501. Krüger G, Schumacher K, Mix M, Pelz L. [Familial Noonan syndrome]. Kinderarztl Prax. 1989 May;57(5).245-8. German.
502. Tatsukawa H, Okajima Y, Furukawa K, Katsume H, Miyao K, Nakagawa M. Giant right atrial thrombus in Noonan syndrome combined with Eisenmenger's complex. Chest. 1989 Apr;95(4).930-2.
503. Zubeldia Sánchez J, Cabrera Duro A, Sánchez Obregón M, Pilar Uribe J, Sarrionandia Uribelarrea M, Sebastián Ruiz MJ, Benito Basanta L. [Cardiopathy in Noonan syndrome. Review of 29 cases]. An Esp Pediatr. 1989 Feb;30(2).104-8. Review. Spanish.
504. Kerner U. [A case report of Noonan syndrome-like symptom complex]. Z Arztl Fortbild (Jena). 1989;83(23).1193-7. German.
505. Borochowitz Z, Berant N, Dar H, Berant M. The neurofibromatosis-Noonan syndrome. genetic heterogeneity versus clinical variability. Case report and review of the literature. Neurofibromatosis. 1989;2(5-6).309-14. Review.
506. Riccardi VM. Syndromology gone awry--the phenotypic overlap of NF-1 with the Noonan syndrome. Neurofibromatosis. 1989;2(5-6).249-50.
507. Nilsson KO. What is the value of growth hormone treatment in short children with specified syndrome? Turner's syndrome, osteochondrodysplasias, Prader-Willi syndrome, Noonan syndrome. Acta Paediatr Scand Suppl. 1989;362.61-8. Review.
508. Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR. Noonan syndrome. growth and clinical manifestations in 144 cases. Eur J Pediatr. 1988 Dec;148(3).220-7.
509. Finegan JA, Hughes HE. Very superior intelligence in a child with Noonan syndrome. Am J Med Genet. 1988 Oct;31(2).385-9.
510. Witt DR, McGillivray BC, Allanson JE, Hughes HE, Hathaway WE, Zipursky A, Hall JG. Bleeding diathesis in Noonan syndrome. a common association. Am J Med Genet. 1988 Oct;31(2).305-17.
511. Hrobonová V, Bartáková H, Vorísková M, Hucín B, Tůma S, First I, Svobodová M. [Diagnosis and surgical treatment of pulmonary stenosis in children with the Noonan syndrome]. Cesk Pediatr. 1988 Oct;43(10).594-8. Czech.
512. Abuelo DN, Meryash DL. Neurofibromatosis with fully expressed Noonan syndrome. Am J Med Genet. 1988 Apr;29(4).937-41.
513. de Haan M, vd Kamp JJ, Briët E, Dubbeldam J. Noonan syndrome. partial factor XI deficiency. Am J Med Genet. 1988 Feb;29(2).277-82.
514. Lin AE. Noonan syndrome. J Med Genet. 1988 Jan;25(1).64-5.
515. Verloes A, Le Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML. CFC syndrome. a syndrome distinct from Noonan syndrome. Ann Genet. 1988;31(4).230-4.
516. Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG. Lymphedema in Noonan syndrome. clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet. 1987 Aug;27(4).841-56. Review.
517. Cianfarani S, Spadoni GL, Finocchi G, Ravet P, Costa F, Papa M, Scirè G, Manca Bitti ML, Boscherini B. [Treatment with growth hormone (GH) in 3 cases of Noonan syndrome]. Minerva Pediatr. 1987 Apr 15;39(7).281-4. Italian.
518. Velasco-Sánchez RG, Jiménez-Arteaga S, Martínez-Sánchez A, Jiménez-Zepeda D, Alva-Espinoza C, Santamaría-Díaz H, Díaz-Arauzo A. [Diagnostic usefulness of echocardiography in the Noonan syndrome]. Bol Med Hosp Infant Mex. 1987 Apr;44(4).193-201. Spanish.
519. de Haan M, van de Kamp JJ, Briët E. [Hemorrhagic diathesis in Noonan syndrome]. Tijdschr Kindergeneeskd. 1987 Apr;55(2).78. Dutch.
520. Meinecke P. Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. Am J Med Genet. 1987 Mar;26(3).741-5.
521. Quattrin T, McPherson E, Putnam T. Vertical transmission of the neurofibromatosis/Noonan syndrome. Am J Med Genet. 1987 Mar;26(3).645-9.
522. Kukla L, Kalina Z, Podhradská O, Utĕseny J. [The Noonan syndrome in a boy]. Cesk Pediatr. 1987 Jan;42(1).33-5. Czech.
523. Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1).9-13. Review.
524. Tsuchiya K, Monno S, Tamura Y, Sasaki Y, Hara T, Endo R, Koike S, Furihata Y, Furuta S, Yoshioka J. [Two cases (a father and his son) of Noonan syndrome with hypertrophic cardiomyopathy and suspected chromosomal trisomy in F group]. Nihon Naika Gakkai Zasshi. 1986 Nov;75(11).1602-9. Japanese.
525. Franková Y, Stloukalová M, Rubín A. [The Ullrich-Noonan syndrome in 3 generations]. Cesk Pediatr. 1986 Oct;41(10).615-7. Czech.
526. Krynskiĭ OM, Kurzeneva VM, Marchenko AM, Tsepkov AA. [Case of the Noonan syndrome]. Klin Med (Mosk). 1986 Sep;64(9).119-21. Russian.
527. Witt DR, Keena BA, Hall JG, Allanson JE. Growth curves for height in Noonan syndrome. Clin Genet. 1986 Sep;30(3).150-3.
528. Chhangani K, Kothari D, Banerjee K. Noonan syndrome. J Assoc Physicians India. 1986 Aug;34(8).604.
529. Ruige P, van Oostrom C. [Tendency toward bleeding in Noonan syndrome]. Tijdschr Kindergeneeskd. 1986 Aug;54(4).107-11. Dutch.
530. Krawczyński M, Latos-Bieleńska A, Gabryel-Grudziak A, Baczyk I, Kotwicka W. [Diagnosis and differential diagnosis of Noonan syndrome in a 13-year-old girl]. Wiad Lek. 1986 Jul 1;39(13).915-21. Polish.
531. Theile U. [Cardiac findings in Noonan syndrome]. Med Klin (Munich). 1986 Jun 20;81(14).481-5. German.
532. Mastiukova EM. [Noonan syndrome (review of the foreign literature)]. Zh Nevropatol Psikhiatr Im S S Korsakova. 1986;86(10).1579-82. Review. Russian.
533. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome. the changing phenotype. Am J Med Genet. 1985 Jul;21(3).507-14.
534. Kumanov P. Elevated basal levels and exaggerated responses to thyrotrophin-releasing hormone of prolactin and thyrotrophin in Turner-Noonan-Syndrome. Andrologia. 1985 Jul-Aug;17(4).395-9.
535. Saul RA. Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis. Am J Med Genet. 1985 Jul;21(3).491-2.
536. Opitz JM, Weaver DD. The neurofibromatosis-Noonan syndrome. Am J Med Genet. 1985 Jul;21(3).477-90.
537. Mendez HM. The neurofibromatosis-Noonan syndrome. Am J Med Genet. 1985 Jul;21(3).471-6.
538. Opitz JM. The Noonan syndrome. Am J Med Genet. 1985 Jul;21(3).515-8.
539. Mendez HM, Opitz JM. Noonan syndrome. a review. Am J Med Genet. 1985 Jul;21(3).493-506. Review.
540. Occella C, Gargani GF, Rampini E, Ferrando A, Schiazza L, Nemelka O, Romano C. [Noonan syndrome and keratosis pilaris atrophicans faciei. Significance of dermatologic changes]. Minerva Pediatr. 1985 Feb 28;37(4).181-6. Italian.
541. Raman Unnithan R, Bahuleyan CG, Matnew Roy VC. Noonan syndrome. J Assoc Physicians India. 1985 Feb;33(2).177-9.
542. Horiguchi Y, Murakami K, Fujiwara Y, Tsuji T, Ito S, Sato K, Osumi A, Yozawa T. [Operation and postoperative observation of a case of Noonan syndrome with VSD, PS and low intelligence]. Kyobu Geka. 1985 Jan;38(1).41-5. Japanese.
543. Pohjola-Sintonen S. Noonan syndrome and hyperextensible finger joints. Arch Intern Med. 1985 Jan;145(1).179-80.
544. Preus M. Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome. J Ment Defic Res. 1984 Sep;28 ( Pt 3).235-8.
545. Kaushik A, Kharbanda OP, Sadhna, Jain PK, Kumar R. Noonan syndrome. Indian Pediatr. 1984 May;21(5).421-2.
546. Paul R, Cohen DJ, Volkmar FR. Autistic behaviors in a boy with Noonan syndrome. J Autism Dev Disord. 1983 Dec;13(4).433-4.
547. García Fernández F, Pavón Freire C, Pérez Benito L, Cabrera Pérez A, Vesga Carasa JC, Villalobos JL. [Ulrich-Noonan syndrome associated with coarctation of the aorta. Presentation of a new case]. Med Clin (Barc). 1983 Sep 10;81(6).278-9. Spanish.
548. de Planque MM, van der Graaff L, Meinders AE. [A patient with features of the Noonan syndrome and neurofibromatosis]. Ned Tijdschr Geneeskd. 1983 Sep 10;127(37).1674-8. Dutch.
549. Kováts-Szabó E. [Noonan syndrome in girls]. Orv Hetil. 1983 Jun 12;124(24).1445-7. Hungarian.
550. Mukherji U, Abbas M. Noonan syndrome. Indian Pediatr. 1983 Jun;20(6).455-7.
551. Corrales Hernández JJ, Miralles García JM, Castaño L, Martín T. [Pituitary, thyroid, adrenal and gonadal function in a male with Noonan syndrome. Study of new changes]. Med Clin (Barc). 1983 Apr 23;80(14).627-30. Spanish.
552. Sanchez-Cascos A. The Noonan syndrome. Eur Heart J. 1983 Apr;4(4).223-9.
553. Faure Nogueras E, Roche Asensio MJ, Blasco Comenge MC. [Familial Noonan syndrome]. Med Clin (Barc). 1983 Feb 19;80(5).231-2. Spanish.
554. Kitchens CS, Alexander JA. Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome. J Pediatr. 1983 Feb;102(2).224-7.
555. Sobral Filho DC, de Oliveira MC, Lopes AN, Brindeiros Filho DF, de Carvalho JA, Victor EG. [Noonan syndrome]. Arq Bras Cardiol. 1983 Jan;40(1).47-9. Portuguese.
556. Strømme Koppang H, Boman H, Hoel PS. Oral abnormalities in the Saldino-Noonan syndrome. Virchows Arch A Pathol Anat Histopathol. 1983;398(3).247-62.
557. Mazana Rivera M. [Noonan syndrome. endocrinological study]. Med Clin (Barc). 1982 Oct 15;79(6).292. Spanish.
558. Wilson M, Dyson A. Noonan syndrome. speech and language characteristics. J Commun Disord. 1982 Sep;15(5).347-52.
559. Connor JM, Evans DA, Goose DH. Multiple odontogenic keratocysts in a case of the Noonan syndrome. Br J Oral Surg. 1982 Sep;20(3).213-6.
560. Hernández Merino A, Asolo Etxeandía I, Bernácer Borja M, Azcona Olivera I. [Noonan syndrome associated with acute lymphoblastic leukosis]. An Esp Pediatr. 1982 Jul;17(1).78-80. Spanish.
561. Kudo K, Murayama K, Takahashi F, Nishijo T, Okada R, Kitamura K. [Case of Noonan syndrome with hypertrophic cardiomyopathy and a prominent outflow tract pressure gradient]. Nihon Naika Gakkai Zasshi. 1982 Jun 10;71(6).810-7. Japanese.
562. Hoeffel JC, Juncker P, Delgoffe C, Pernot C. [Radiological anomalies in the Noonan syndrome (author's transl)]. Sem Hop. 1982 May 6;58(18).1119-22. French.
563. Burn J, Baraitser M. Primidone teratogenicity of Noonan syndrome. J Pediatr. 1982 May;100(5).836.
564. Struck E, Nöldge G, Forster J. [Report of two cases with a very rare complication possibly associated with the Noonan-syndrome (author's transl)]. Klin Padiatr. 1982 Mar;194(2).120-3. German.
565. Vlaminck S, D'Hont G, Vanagt-Meire F, Ampe W, Depondt M. [The Noonan syndrome]. Acta Otorhinolaryngol Belg. 1982;36(6).1011-20. Dutch.
566. Johnson VP, Petersen LP, Holzwarth DR, Messner FD. Midtrimester prenatal diagnosis of short-limb dwarfism (Saldino-Noonan syndrome). Birth Defects Orig Artic Ser. 1982;18(3 Pt A).133-41.
567. Schirren C, Fumey S. [Andrological results in Turner-Noonan syndrome]. Andrologia. 1982 Jan-Feb;14(1).68-76. German.
568. Traisman ES, Traisman HS. Noonan syndrome. A report of male-to-male transmission. Clin Pediatr (Phila). 1982 Jan;21(1).51-3.
569. Hoeffel JC, Juncker P, Delgoffe C, Pernot C. [Radiological anomalies in the Noonan syndrome (author's transl)]. Ann Pediatr (Paris). 1981 Nov;28(9).649-52. French.
570. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, Huot DJ, Sondheimer HM, Rowe RD. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet. 1981;10(1).37-50.
571. Neeb-Chrubasik S, Minne H, Kerner W. [The Noonan syndrome (author's transl)]. MMW Munch Med Wochenschr. 1980 Oct 24;122(43).1508-10. German.
572. Kumta NB, Vengsarkar AS, Mhaiskar U. Noonan syndrome (case reports). Indian Pediatr. 1980 Aug;17(8).703-5.
573. Nielsen DB. Sex chromosome abnormalities and Noonan Syndrome. Ariz Med. 1980 Jul;37(7).486-90.
574. Környei V, Kiss A. [Noonan syndrome]. Orv Hetil. 1980 Jun 15;121(24).1456-8. Hungarian.
575. Johansson BW, Mandahl N. Ullrich-Noonan syndrome. Acta Med Scand. 1980;207(6).505-10.
576. Vergesslich KA, Schlemmer M, Wimmer M. [Noonan syndrome in the differential diagnosis of Turner syndrome]. Padiatr Padol. 1980;15(3).195-203. German.
577. Zbucki Z, Czarnecki J. [Noonan syndrome in a female child]. Pediatr Pol. 1980 Jan;55(1).95-7. Polish.
578. Hernandez RJ, Stern AM, Rosenthal A. Pulmonary lymphangiectasis in Noonan syndrome. AJR Am J Roentgenol. 1980 Jan;134(1).75-80.
579. Jackson G, Anand IS, Oram S. Asymmetric septal hypertrophy and propranolol treatment in a case of Ullrich-Noonan syndrome. Br Heart J. 1979 Nov;42(5).611-4.
580. Hopkins-Acos P, Bunker K. A child with Noonan syndrome. J Speech Hear Disord. 1979 Nov;44(4).494-503.
581. de Majo SF, de Otero BC, Reichmann A. [Noonan syndrome. differential diagnosis with Turner's syndrome]. Bol Med Hosp Infant Mex. 1979 Nov-Dec;36(6).1089-97. Spanish.
582. Rossoni R, Bertoli G. [The Saldino-Noonan syndrome. Observation of a case]. Minerva Pediatr. 1979 Sep 30;31(18).1351-6. Italian.
583. Smith S, Schulman A, Weir EK, Beatty DW, Joffe HS. Lymphatic abnormalities in Noonan syndrome. A case report. S Afr Med J. 1979 Aug 18;56(7).271-4.
584. Lai KN, Lam KC, Lawton JW. Dizygosity of discordant twins with Noonan syndrome. Clin Genet. 1979 Jun;15(6).509-12.
585. Pierini DO, Pierini AM. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes). a cutaneous marker in the Noonan syndrome. Br J Dermatol. 1979 Apr;100(4).409-16.
586. Wilroy RS Jr, Summitt RL, Tipton RE, Primm PA, Martens PR. Phenotypic heterogeneity in the Noonan syndrome. Birth Defects Orig Artic Ser. 1979;15(5B).305-11.
587. Seemanová E, Endler P, Benesová D, Svobodová J, Salichová J. [The Saldin-Noonan syndrome]. Cas Lek Cesk. 1978 Aug 4;117(31).967-70. Czech.
588. Miller M, Motulsky AC. Noonan syndrome in an adult family presenting with chronic lymphedema. Am J Med. 1978 Aug;65(2).379-83.
589. Matsuo N. [Noonan syndrome]. Nihon Rinsho. 1978 May;Suppl.2042-3. Japanese.
590. Fryns JP, Van der Hauwaert L, Van den Berghe H. The Noonan syndrome. Acta Paediatr Belg. 1977 Jul-Sep;30(3).Suppl III.17-24.
591. Krishna NR, Abrams R, Taylor MA, Behar D. Schizophrenia in a 46,XY male with the Noonan syndrome. Br J Psychiatry. 1977 Jun;130.570-2.
592. Keutel J. [Special cardiological problems of the Noonan syndrome]. Monatsschr Kinderheilkd. 1977 May;125(5).483-4. German.
593. Tanimura A, Hayashi I, Adachi K, Nakashima T, Ota K, Toshima H. Noonan syndrome with hypertrophic obstructive cardiomyopathy. Acta Pathol Jpn. 1977 Mar;27(2).225-30.
594. Bamrah VS, Ajlouni K, Squires WH, Hughes CV, Rosenfeld PS, Tristani FE. Aortic regurgitation and pigmentation - unusual features of Noonan syndrome. Am J Med Sci. 1976 Mar-Apr;271(2).211-4.
595. Cremers C. Letter. Hearing loss in Noonan syndrome. J Pediatr. 1976 Feb;88(2).363.
596. Herzog DB, Logan R, Kooistra JB. The Noonan syndrome with intestinal lymphangiectasia. J Pediatr. 1976 Feb;88(2).270-2.
597. Berberich MS, Hall JG. Noonan syndrome-an unusual family with above average intelligence, a high incidence of cancer and rare type of vasculitis. Birth Defects Orig Artic Ser. 1976;12(1).181-6.
598. Elders MJ, Char F. Possible etiologic mechanisms of the short stature in the Noonan syndrome. Birth Defects Orig Artic Ser. 1976;12(6).127-33.
599. Nora JJ, Lortscher RH, Spangler RD. Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child. 1975 Dec;129(12).1417-20.
600. Hunter A, Pinsky L. An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. J Pediatr. 1975 Mar;86(3).412-5.
601. Karpouzas J, Papaioannou AC. Noonan syndrome in twins. J Pediatr. 1974 Jul;85(1).84-6.
602. Allen HD, Larter WE, Goldberg SJ. Letter. The Ullrich-Noonan syndrome. Am J Dis Child. 1974 Jul;128(1).115-6.
603. Reither M, Schwanitz G, Eschenbacher HL. [The Noonan syndrome. Clinical and cytogenetic investigations with particular emphasis on cardiologic findings (author's transl)]. Klin Padiatr. 1974 Jul;186(4).325-35. German.
604. Caralis DG, Char F, Graber JD, Voigt GC. Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature. Johns Hopkins Med J. 1974 Jun;134(6).346-55.
605. Caralis DG, Char F, Graber JD, Voigt GC. Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature. Johns Hopkins Med J. 1974 Jun;134(6).346-55.
606. Bianchine JW, Taylor BD. Letter. Noonan syndrome and fetal alcohol syndrome. Lancet. 1974 May 11;1(7863).933.
607. Bolton MR, Pugh DM, Mattioli LF, Dunn MI, Schimke RN. The Noonan syndrome. a family study. Ann Intern Med. 1974 May;80(5).626-9.
608. Qazi QH, Arnon RG, Paydar MH, Mapa HC. Familial occurrence of Noonan syndrome. Am J Dis Child. 1974 May;127(5).696-8.
609. Blaim A, Czubkowska I. [2 cases of Noonan syndrome in boys (so-called male Turner's syndrome)]. Pediatr Pol. 1974 Feb;49(2).209-12. Polish.
610. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child. 1974 Jan;127(1).48-55.
611. Penchaszadeh VB, Coco R, Farías R, Bergadá C. Clinical and familial studies in the Noonan syndrome. Birth Defects Orig Artic Ser. 1974;10(10).158-64.
612. Bianchine JW. Noonan syndrome and trisomy 21 mongolism in sibs. Am J Dis Child. 1973 Dec;126(6).823-6.
613. Collins E, Turner G. The Noonan syndrome--a review of the clinical and genetic features of 27 cases. J Pediatr. 1973 Dec;83(6).941-50.
614. Barlow MJ Jr, Neu RL, Gardner LI. X-chromosome banding in Noonan syndrome. Am J Dis Child. 1973 Nov;126(5).656-7.
615. Borgaonkar DS. Normal banded karyotype in Noonan syndrome. Lancet. 1973 May 19;1(7812).1114.
616. Duenas DA, Preissig S, Summitt RL, Wilroy RS, Lemmi H, Dews JE. Neurologic manifestations of the Noonan syndrome. South Med J. 1973 Feb;66(2).193-6.
617. Vallet HL, Holtzapple PG, Eberlein WR, Yakovac WC, Moshang T Jr, Bongiovanni AM. Noonan syndrome with intestinal lymphangiectasis. A metabolic and anatomic study. J Pediatr. 1972 Feb;80(2).269-74.
618. Hellebusch AA. Noonan syndrome with bilateral ureteral ectopia. J Pediatr Surg. 1971 Aug;6(4).490.
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