Noonan 综合征

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.全文  摘要

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.全文  摘要

Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.全文  摘要

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. 摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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

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.全文  摘要

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.全文  摘要

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

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.全文  摘要

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

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. 摘要

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

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

42. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2:4.全文  摘要

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.全文  摘要

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

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. 摘要

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. 摘要

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

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. 摘要

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

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. 摘要

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. 摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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. 摘要

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

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. 摘要

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

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

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

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.全文  摘要

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

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. 摘要

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

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

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

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.全文  摘要

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. 摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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.