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
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Genodermatosis
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Genodermatoses and Acquired Syndromes
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Signaling by Tyrosine Phosphorylation in the Nervous System
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Congenital Heart Disease
Katrice L. Herndon, M.D.
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Protein Tyr Phosphatases
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Medical Genetics
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Mendel and Heredity
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Cutaneous Vascular Diseases
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Heart Disease in the Neonate & Fetus
J. Deane Waldman, MD MBA
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Genetics and Dysmorphology
Ramanpreet Dhindsa
https://medapps.mercer.edu
Early Intervention: Supports and Services
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Intellectual Disabilities Definition, Causes, and Characteristics
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A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
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Aortic Dissection
Riya Chacko, MD
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A Case of Hidden Infirmities
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Examples of Chromosomal or Mendelian Disorders
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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.
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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.
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