827 related articles for article (PubMed ID: 17661820)
1. 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]
2. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
Molven A; Søvik O; von der Lippe C; Steine SJ; Njølstad PR; Houge G; Prescott TE
Tidsskr Nor Laegeforen; 2009 Nov; 129(22):2358-61. PubMed ID: 19935936
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H
J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y; Niihori T; Narumi Y; Kure S; Matsubara Y
Hum Mutat; 2008 Aug; 29(8):992-1006. PubMed ID: 18470943
[TBL] [Abstract][Full Text] [Related]
8. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
Jorge AA; Malaquias AC; Arnhold IJ; Mendonca BB
Horm Res; 2009; 71(4):185-93. PubMed ID: 19258709
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
Lee BH; Kim JM; Jin HY; Kim GH; Choi JH; Yoo HW
J Pediatr; 2011 Dec; 159(6):1029-35. PubMed ID: 21784453
[TBL] [Abstract][Full Text] [Related]
11. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L; Kehl HG; Majewski F; Meinecke P; Schweiger S; Gillessen-Kaesbach G; Wieczorek D; Hinkel GK; Tinschert S; Hoeltzenbein M; Ropers HH; Kalscheuer VM
Eur J Hum Genet; 2003 Feb; 11(2):201-6. PubMed ID: 12634870
[TBL] [Abstract][Full Text] [Related]
12. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
Schollen E; Matthijs G; Gewillig M; Fryns JP; Legius E
Eur J Hum Genet; 2003 Jan; 11(1):85-8. PubMed ID: 12529711
[TBL] [Abstract][Full Text] [Related]
13. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
Tidyman WE; Rauen KA
Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlations in Noonan syndrome.
Zenker M; Buheitel G; Rauch R; Koenig R; Bosse K; Kress W; Tietze HU; Doerr HG; Hofbeck M; Singer H; Reis A; Rauch A
J Pediatr; 2004 Mar; 144(3):368-74. PubMed ID: 15001945
[TBL] [Abstract][Full Text] [Related]
15. Germline KRAS mutations cause Noonan syndrome.
Schubbert S; Zenker M; Rowe SL; Böll S; Klein C; Bollag G; van der Burgt I; Musante L; Kalscheuer V; Wehner LE; Nguyen H; West B; Zhang KY; Sistermans E; Rauch A; Niemeyer CM; Shannon K; Kratz CP
Nat Genet; 2006 Mar; 38(3):331-6. PubMed ID: 16474405
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
Bentires-Alj M; Paez JG; David FS; Keilhack H; Halmos B; Naoki K; Maris JM; Richardson A; Bardelli A; Sugarbaker DJ; Richards WG; Du J; Girard L; Minna JD; Loh ML; Fisher DE; Velculescu VE; Vogelstein B; Meyerson M; Sellers WR; Neel BG
Cancer Res; 2004 Dec; 64(24):8816-20. PubMed ID: 15604238
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
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]
