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4. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. 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 Genes Chromosomes Cancer; 2010 Jul; 49(7):635-41. PubMed ID: 20461756 [TBL] [Abstract][Full Text] [Related]
5. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Fabretto A; Kutsche K; Harmsen MB; Demarini S; Gasparini P; Fertz MC; Zenker M Eur J Med Genet; 2010; 53(5):322-4. PubMed ID: 20673819 [TBL] [Abstract][Full Text] [Related]
6. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. Nyström AM; Ekvall S; Thuresson AC; Denayer E; Legius E; Kamali-Moghaddam M; Westermark B; Annerén G; Bondeson ML Eur J Med Genet; 2010; 53(3):117-21. PubMed ID: 20302979 [TBL] [Abstract][Full Text] [Related]
7. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625 [TBL] [Abstract][Full Text] [Related]
8. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Mutesa L; Pierquin G; Janin N; Segers K; Thomée C; Provenzi M; Bours V Cancer Genet Cytogenet; 2008 Apr; 182(1):40-2. PubMed ID: 18328949 [TBL] [Abstract][Full Text] [Related]
9. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. Hanna N; Parfait B; Talaat IM; Vidaud M; Elsedfy HH Clin Genet; 2009 Jun; 75(6):568-71. PubMed ID: 19438935 [TBL] [Abstract][Full Text] [Related]
10. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Razzaque MA; Nishizawa T; Komoike Y; Yagi H; Furutani M; Amo R; Kamisago M; Momma K; Katayama H; Nakagawa M; Fujiwara Y; Matsushima M; Mizuno K; Tokuyama M; Hirota H; Muneuchi J; Higashinakagawa T; Matsuoka R Nat Genet; 2007 Aug; 39(8):1013-7. PubMed ID: 17603482 [TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular characterization of 40 patients with Noonan syndrome. Ferrero GB; Baldassarre G; Delmonaco AG; Biamino E; Banaudi E; Carta C; Rossi C; Silengo MC Eur J Med Genet; 2008; 51(6):566-72. PubMed ID: 18678287 [TBL] [Abstract][Full Text] [Related]
12. Response to growth hormone in short children with Noonan syndrome: correlation to genotype. Binder G Horm Res; 2009 Dec; 72 Suppl 2():52-6. PubMed ID: 20029239 [TBL] [Abstract][Full Text] [Related]
13. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Chen Y; Takita J; Hiwatari M; Igarashi T; Hanada R; Kikuchi A; Hongo T; Taki T; Ogasawara M; Shimada A; Hayashi Y Genes Chromosomes Cancer; 2006 Jun; 45(6):583-91. PubMed ID: 16518851 [TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. Lee ST; Ki CS; Lee HJ Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820 [TBL] [Abstract][Full Text] [Related]
15. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757 [TBL] [Abstract][Full Text] [Related]
16. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. Ko JM; Kim JM; Kim GH; Yoo HW J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799 [TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. Komatsuzaki S; Aoki Y; Niihori T; Okamoto N; Hennekam RC; Hopman S; Ohashi H; Mizuno S; Watanabe Y; Kamasaki H; Kondo I; Moriyama N; Kurosawa K; Kawame H; Okuyama R; Imaizumi M; Rikiishi T; Tsuchiya S; Kure S; Matsubara Y J Hum Genet; 2010 Dec; 55(12):801-9. PubMed ID: 20882035 [TBL] [Abstract][Full Text] [Related]
18. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? Brasil AS; Malaquias AC; Wanderley LT; Kim CA; Krieger JE; Jorge AA; Pereira AC; Bertola DR Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):717-22. PubMed ID: 21340158 [TBL] [Abstract][Full Text] [Related]
19. [New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1]. Dereure O Ann Dermatol Venereol; 2008; 135(8-9):624-5. PubMed ID: 18789305 [No Abstract] [Full Text] [Related]
20. Malignant diseases in Noonan syndrome and related disorders. Hasle H Horm Res; 2009 Dec; 72 Suppl 2():8-14. PubMed ID: 20029231 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]