1 Tajan M, "The RASopathy family : consequences of germline activation of the RAS/MAPK pathway" 39 : 676-700, 2018
2 Tidyman WE, "The RASopathies : developmental syndromes of Ras/MAPK pathway dysregulation" 19 : 230-236, 2009
3 Aoki Y, "The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders" 29 : 992-1006, 2008
4 Lee BH, "Spectrum of mutations in Noonan syndrome and their correlation with phenotypes" 159 : 1029-1035, 2011
5 Dentici ML, "Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations" 17 : 733-740, 2009
6 Tartaglia M, "Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia" 34 : 148-150, 2003
7 Kirk JM, "Short stature in Noonan syndrome : response to growth hormone therapy" 84 : 440-443, 2001
8 Gureasko J, "Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless" 107 : 3430-3435, 2010
9 Tamburrino F, "Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: patterns of growth, puberty and final height data" 167A : 2786-2794, 2015
10 Raaijmakers R, "Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database" 21 : 267-273, 2008
1 Tajan M, "The RASopathy family : consequences of germline activation of the RAS/MAPK pathway" 39 : 676-700, 2018
2 Tidyman WE, "The RASopathies : developmental syndromes of Ras/MAPK pathway dysregulation" 19 : 230-236, 2009
3 Aoki Y, "The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders" 29 : 992-1006, 2008
4 Lee BH, "Spectrum of mutations in Noonan syndrome and their correlation with phenotypes" 159 : 1029-1035, 2011
5 Dentici ML, "Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations" 17 : 733-740, 2009
6 Tartaglia M, "Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia" 34 : 148-150, 2003
7 Kirk JM, "Short stature in Noonan syndrome : response to growth hormone therapy" 84 : 440-443, 2001
8 Gureasko J, "Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless" 107 : 3430-3435, 2010
9 Tamburrino F, "Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: patterns of growth, puberty and final height data" 167A : 2786-2794, 2015
10 Raaijmakers R, "Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database" 21 : 267-273, 2008
11 Choi JH, "Response to growth hormone therapy in children with Noonan syndrome : correlation with or without PTPN11 gene mutation" 77 : 388-393, 2012
12 Ko JM, "PTPN11, SOS1, KRAS, and RAF1gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome" 53 : 999-1006, 2008
13 Tartaglia M, "PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity" 70 : 1555-1563, 2002
14 Romano AA, "Noonan syndrome: clinical features, diagnosis, and management guidelines" 126 : 746-759, 2010
15 Jorge AA, "Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway" 71 : 185-193, 2009
16 Tartaglia M, "Noonan syndrome and related disorders : genetics and pathogenesis" 6 : 45-68, 2005
17 Roberts AE, "Noonan syndrome" 381 : 333-342, 2013
18 Stofega MR, "Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GHpromoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B" 14 : 1338-1350, 2000
19 Cordeddu V, "Mutation of SHOC2 promotes aberrant protein Nmyristoylation and causes Noonan-like syndrome with loose anagen hair" 41 : 1022-1026, 2009
20 Schulz AL, "Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome" 73 : 62-70, 2008
21 Komatsuzaki S, "Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies" 55 : 801-809, 2010
22 Narumi Y, "Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome:overlapping clinical manifestations with Costello syndrome" 143A : 799-807, 2007
23 Kobayashi T, "Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation" 31 : 284-294, 2010
24 Kavamura MI, "Management of genetic syndromes" Wiley-Blackwell 149-156, 2010
25 Kerr B, "Management of genetic syndromes" Wiley-Blackwell 211-225, 2010
26 Noordam C, "Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11" 159 : 203-208, 2008
27 Osio D, "Improved final height with long-term growth hormone treatment in Noonan syndrome" 94 : 1232-1237, 2005
28 Romano AA, "Growth response, near-adult height, and patterns of growth and puberty in patients with Noonan syndrome treated with growth hormone" 94 : 2338-2344, 2009
29 Digilio MC, "Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene" 71 : 389-394, 2002
30 Niihori T, "Germline-activating RRAS2 mutations cause Noonan syndrome" 104 : 1233-1240, 2019
31 Roberts AE, "Germline gain-of-function mutations in SOS1 cause Noonan syndrome" 39 : 70-74, 2007
32 Razzaque MA, "Germline gain-of-function mutations in RAF1 cause Noonan syndrome" 39 : 1013-1017, 2007
33 Niihori T, "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome" 38 : 294-296, 2006
34 Sarkozy A, "Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum" 30 : 695-702, 2009
35 Zenker M, "Genotype-phenotype correlations in Noonan syndrome" 144 : 368-374, 2004
36 Kerr B, "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases" 43 : 401-405, 2006
37 Kouz K, "Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation" 18 : 1226-1234, 2016
38 Tartaglia M, "Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome" 39 : 75-79, 2007
39 Pandit B, "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy" 39 : 1007-1012, 2007
40 Zenker M, "Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations" 44 : 131-135, 2007
41 van der Burgt I, "Clinical and molecular studies in a large Dutch family with Noonan syndrome" 53 : 187-191, 1994
42 Nava C, "Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway : genotype-phenotype relationships and overlap with Costello syndrome" 44 : 763-771, 2007
43 Jongmans MC, "Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation" 19 : 870-874, 2011
44 Padidela R, "Abnormal growth in Noonan syndrome : genetic and endocrine features and optimal treatment" 70 : 129-136, 2008
45 Cirstea IC, "A restricted spectrum of NRAS mutations causes Noonan syndrome" 42 : 27-29, 2010