437 related articles for article (PubMed ID: 18678287)
1. 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]
2. 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]
3. 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]
4. 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]
5. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS
Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Tartaglia M; Mehler EL; Goldberg R; Zampino G; Brunner HG; Kremer H; van der Burgt I; Crosby AH; Ion A; Jeffery S; Kalidas K; Patton MA; Kucherlapati RS; Gelb BD
Nat Genet; 2001 Dec; 29(4):465-8. PubMed ID: 11704759
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Noonan syndrome, the Ras-MAPK signalling pathway and short stature.
Binder G
Horm Res; 2009 Apr; 71 Suppl 2():64-70. PubMed ID: 19407499
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
Araki T; Mohi MG; Ismat FA; Bronson RT; Williams IR; Kutok JL; Yang W; Pao LI; Gilliland DG; Epstein JA; Neel BG
Nat Med; 2004 Aug; 10(8):849-57. PubMed ID: 15273746
[TBL] [Abstract][Full Text] [Related]
14. High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
Lo FS; Luo JD; Lee YJ; Shu SG; Kuo MT; Chiou CC
Clin Chim Acta; 2009 Nov; 409(1-2):75-7. PubMed ID: 19737548
[TBL] [Abstract][Full Text] [Related]
15. Pilocytic astrocytoma in a child with Noonan syndrome.
Schuettpelz LG; McDonald S; Whitesell K; Desruisseau DM; Grange DK; Gurnett CA; Wilson DB
Pediatr Blood Cancer; 2009 Dec; 53(6):1147-9. PubMed ID: 19621452
[TBL] [Abstract][Full Text] [Related]
16. SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD; Winter JM; Reis M; Bentires-Alj M; Greulich H; Grewal R; Hruban RH; Yeo CJ; Yassin Y; Iartchouk O; Montgomery K; Whitman SP; Caligiuri MA; Loh ML; Gilliland DG; Look AT; Kucherlapati R; Kern SE; Meyerson M; Neel BG
Genes Chromosomes Cancer; 2008 Mar; 47(3):253-9. PubMed ID: 18064648
[TBL] [Abstract][Full Text] [Related]
17. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Ferreira LV; Souza SC; Montenegro LR; Malaquias AC; Arnhold IJ; Mendonca BB; Jorge AA
Clin Endocrinol (Oxf); 2008 Sep; 69(3):426-31. PubMed ID: 18331608
[TBL] [Abstract][Full Text] [Related]
18. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M; Lehmann K; Schulz AL; Barth H; Hansmann D; Koenig R; Korinthenberg R; Kreiss-Nachtsheim M; Meinecke P; Morlot S; Mundlos S; Quante AS; Raskin S; Schnabel D; Wehner LE; Kratz CP; Horn D; Kutsche K
J Med Genet; 2007 Feb; 44(2):131-5. PubMed ID: 17056636
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].
Gos M; Leszkiewicz M; Abramowicz A
Postepy Biochem; 2012; 58(3):255-64. PubMed ID: 23373411
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
