27 July 2012

Noonan syndrome



Noonan syndrome is a disease that can be passed down through families (inherited). It causes abnormal development in many parts of the body. Noonan syndrome used to be called Turner-like syndrome.

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.edu/

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.
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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.
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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.
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567.          Schirren C, Fumey S. [Andrological results in Turner-Noonan syndrome]. Andrologia. 1982 Jan-Feb;14(1).68-76. German.
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573.          Nielsen DB. Sex chromosome abnormalities and Noonan Syndrome. Ariz Med. 1980 Jul;37(7).486-90.
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576.          Vergesslich KA, Schlemmer M, Wimmer M. [Noonan syndrome in the differential  diagnosis of Turner syndrome]. Padiatr Padol. 1980;15(3).195-203. German.
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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.
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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.
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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.
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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.
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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.
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