Síndrome de Noonan

Jorge AA, Malaquias AC, Arnhold IJ, et al. 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.Texto completo  Resumo

Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Texto completo  Resumo

Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.Texto completo  Resumo

Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Resumo

Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Resumo

Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Resumo

Raaijmakers R, Noordam C, Karagiannis G, et al. 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. Resumo

1. Jorge AA, Malaquias AC, Arnhold IJ, et al. 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.Texto completo  Resumo

2. Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005 Sep 15;106(6):2183-5.Texto completo  Resumo

3. Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. Resumo

4. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan;39(1):75-9. Resumo

5. Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. Resumo

6. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. Resumo

7. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. Resumo

8. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9.Texto completo  Resumo

9. Nyström AM, Ekvall S, Berglund E, et al. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet. 2008 Aug;45(8):500-6. Resumo

10. Sarkozy A, Carta C, Moretti S, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702.Texto completo  Resumo

11. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001 Dec;29(4):465-8. Resumo

12. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002 Jun;70(6):1555-63.Texto completo  Resumo

13. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985 Jul;21(3):493-506. Resumo

14. Yoshida R, Hasegawa T, Hasegawa Y, et al. Protein-tyrosine phosphatase, non-receptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab. 2004 Jul;89(7):3359-64.Texto completo  Resumo

15. Limal JM, Parfait B, Cabrol S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6.Texto completo  Resumo

16. Carta C, Pantaleoni F, Bocchinfuso G, et al. 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.Texto completo  Resumo

17. Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet. 2007 Feb;44(2):131-5.Texto completo  Resumo

18. Cordeddu V, Di Schiavi E, Pennacchio LA, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009 Sep;41(9):1022-6.Texto completo  Resumo

19. Martinelli S, De Luca A, Stellacci E, et al. 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.Texto completo  Resumo

20. Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80.Texto completo  Resumo

21. Chen PC, Yin J, Yu HW, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8.Texto completo  Resumo

22. Yamamoto GL, Aguena M, Gos M, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun;52(6):413-21.Texto completo  Resumo

23. Gripp KW, Aldinger KA, Bennett JT, et al. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 Sep;170(9):2237-47.Texto completo  Resumo

24. Clark EB. Mechanisms in the pathogenesis of congenital heart defects. Proc Greenwood Genet Cen. 1985;4:80-1.

25. Binder G, Neuer K, Ranke MB, et al. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81.Texto completo  Resumo

26. Stofega MR, Herrington J, Billestrup N, et al. Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol. 2000 Sep;14(9):1338-50.Texto completo  Resumo

27. Quaio CR, Carvalho JF, da Silva CA, et al. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A. 2012 May;158A(5):1077-82. Resumo

28. Tartaglia M, Cordeddu V, Chang H, et al. 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.Texto completo  Resumo

29. Sharland M, Burch M, McKenna WM, et al. A clinical study of Noonan syndrome. Arch Dis Child. 1992 Feb;67(2):178-83.Texto completo  Resumo

30. Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Texto completo  Resumo

31. Shah N, Rodriguez M, St Louis D, et al. Feeding difficulties and foregut dysmotility in Noonan's syndrome. Arch Dis Child. 1999 Jul;81(1):28-31.Texto completo  Resumo

32. Witt DR, Keena BA, Hall JG, et al. Growth curves for height in Noonan syndrome. Clin Genet. 1986 Sep;30(3):150-3. Resumo

33. Elsawi MM, Pryor JP, Klufio G, et al. Genital tract function in men with Noonan syndrome. J Med Genet. 1994 Jun;31(6):468-70.Texto completo  Resumo

34. Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.Texto completo  Resumo

35. Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Resumo

36. Sarimski K. Developmental and behavioural phenotype in Noonan syndrome? Genet Couns. 2000;11(4):383-90. Resumo

37. Pierpont EI, Weismer SE, Roberts AE, et al. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug;53(4):917-32.Texto completo  Resumo

38. Alfieri P, Cesarini L, De Rose P, et al. Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. Am J Med Genet A. 2011 Oct;155A(10):2459-64. Resumo

39. Wingbermühle E, Roelofs RL, van der Burgt I, et al. Cognitive functioning of adults with Noonan syndrome: a case-control study. Genes Brain Behav. 2012 Oct;11(7):785-93.Texto completo  Resumo

40. 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. Resumo

41. Sharland M, Patton MA, Talbot S, et al. Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet. 1992 Jan 4;339(8784):19-21. Resumo

42. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2:4.Texto completo  Resumo

43. van Trier DC, van der Burgt I, Draaijer RW, et al. Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. Eur J Pediatr. 2018 Aug;177(8):1293-98.Texto completo  Resumo

44. Stevenson DA, Allen S, Tidyman WE, et al. Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012 Sep;46(3):394-9. Resumo

45. 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. Resumo

46. Achiron R, Heggesh J, Grisaru D, et al. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet. 2000 May 29;92(3):159-65. Resumo

47. Benacerraf BR, Greene MF, Holmes LB. The prenatal sonographic features of Noonan's syndrome. J Ultrasound Med. 1989 Feb;8(2):59-63. Resumo

48. Houweling AC, de Mooij YM, van der Burgt I, et al. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. Prenat Diagn. 2010 Mar;30(3):284-6. Resumo

49. Bawle EV, Black V. Nonimmune hydrops fetalis in Noonan's syndrome. Am J Dis Child. 1986 Aug;140(8):758-60. Resumo

50. George CD, Patton MA, El Sawi M, et al. Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Pediatr Radiol. 1993;23(4):316-8. Resumo

51. Duncan WJ, Fowler RS, Farkas LG, et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet. 1981;10(1):37-50. Resumo

52. Derbent M, Oncel Y, Tokel K, et al. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet A. 2010 Nov;152A(11):2768-74. Resumo

53. Briggs BJ, Dickerman JD. Bleeding disorders in Noonan syndrome. Pediatr Blood Cancer. 2012 Feb;58(2):167-72. Resumo

54. Marcus KA, Sweep CG, van der Burgt I, et al. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab. 2008 Nov;21(11):1079-84. Resumo

55. Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993 Oct;22(4):1189-92.Texto completo  Resumo

56. Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Resumo

57. Noonan JA, O'Connor W. Noonan syndrome: a clinical description emphasizing the cardiac findings. Acta Paediatr Jpn. 1996 Feb;38(1):76-83. Resumo

58. Lee KA, Williams B, Roza K, et al. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009 Feb;75(2):190-4. Resumo

59. Roelofs RL, Janssen N, Wingbermühle E, et al. Intellectual development in Noonan syndrome: a longitudinal study. Brain Behav. 2016 Jul;6(7):e00479.Texto completo  Resumo

60. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Resumo

61. Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet. 1997 Jul;34(7):582-6.Texto completo  Resumo

62. Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002 Aug;71(2):389-94.Texto completo  Resumo

63. Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42.Texto completo  Resumo

64. Gripp KW, Lin AE, Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006 Jan 1;140(1):1-7. Resumo

65. Ritzén EM, Bergh A, Bjerknes R, et al. Nordic consensus on treatment of undescended testes. Acta Paediatr. 2007 May;96(5):638-43.Texto completo  Resumo

66. Romano AA. Growth and Growth Hormone Treatment in Noonan Syndrome. Pediatr Endocrinol Rev. 2019 May;16(suppl 2):459-464.Texto completo  Resumo

67. Raaijmakers R, Noordam C, Karagiannis G, et al. 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. Resumo

68. Osio D, Dahlgren J, Wikland KA, et al. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr. 2005 Sep;94(9):1232-7. Resumo

69. Romano AA, Dana K, Bakker B, et al. 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. Resumo

70. Ferreira LV, Souza SA, Arnhold IJ, et al. 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.Texto completo  Resumo

71. Jeong I, Kang E, Cho JH, et al. Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):26-30.Texto completo  Resumo

72. Choi JH, Lee BH, Jung CW, et al. Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr. 2012;77(6):388-93.Texto completo  Resumo

73. Malaquias AC, Noronha RM, Souza TTO, et al. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. Horm Res Paediatr. 2019;91(4):252-261.Texto completo  Resumo

74. Noordam C, Peer PG, Francois I, et al. 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.Texto completo  Resumo

75. Seok EM, Park HK, Rho JG, et al. Effectiveness of growth hormone therapy in children with Noonan syndrome. Ann Pediatr Endocrinol Metab. 2020 Sep;25(3):182-186.Texto completo  Resumo

76. Colquitt JL, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis. 2014 Mar-Apr;9(2):144-50.Texto completo  Resumo

77. Kaltenecker E, Schleihauf J, Meierhofer C, et al. Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. Cardiovasc Diagn Ther. 2019 Oct;9(suppl 2):S299-S309.Texto completo  Resumo

78. Cremers CW, van der Burgt CJ. Hearing loss in Noonan syndrome. Int J Pediatr Otorhinolaryngol. 1992 Jan;23(1):81-4. Resumo

79. Jongmans MC, van der Burgt I, Hoogerbrugge PM, et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet. 2011 Aug;19(8):870-4.Texto completo  Resumo

80. Kratz CP, Rapisuwon S, Reed H, et al. Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. Resumo

81. Jongmans MC, Hoogerbrugge PM, Hilkens L, et al. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. Resumo

82. Villani A, Greer MC, Kalish JM, et al. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Clin Cancer Res. 2017 Jun 15;23(12):e83-e90.Texto completo  Resumo

83. Neumann TE, Allanson J, Kavamura I, et al. Multiple giant cell lesions in patients with Noonan and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2009 Apr;17(4):420-5.Texto completo  Resumo

84. Allanson JE. Noonan syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes. 3rd ed. New York, NY: Wiley-Blackwell; 2010:569-86.