170 related articles for article (PubMed ID: 12529707)
1. PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
Kavamura MI; Pomponi MG; Zollino M; Lecce R; Murdolo M; Brunoni D; Alchorne MM; Opitz JM; Neri G
Eur J Hum Genet; 2003 Jan; 11(1):64-8. PubMed ID: 12529707
[TBL] [Abstract][Full Text] [Related]
2. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Ion A; Tartaglia M; Song X; Kalidas K; van der Burgt I; Shaw AC; Ming JE; Zampino G; Zackai EH; Dean JC; Somer M; Parenti G; Crosby AH; Patton MA; Gelb BD; Jeffery S
Hum Genet; 2002 Oct; 111(4-5):421-7. PubMed ID: 12384786
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Sznajer Y; Keren B; Baumann C; Pereira S; Alberti C; Elion J; Cavé H; Verloes A
Pediatrics; 2007 Jun; 119(6):e1325-31. PubMed ID: 17515436
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. [PTPN11 gene mutation in LEOPARD syndrome].
Paradisi M; Pedicelli C; Ciasulli A; Pinto F; Conti E; Sarkozy A; Angelo C
Minerva Pediatr; 2005 Aug; 57(4):189-93. PubMed ID: 16172598
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.
Limongelli G; Hawkes L; Calabro R; McKenna WJ; Syrris P
Eur J Med Genet; 2006; 49(5):426-30. PubMed ID: 16488201
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
Tartaglia M; Cotter PD; Zampino G; Gelb BD; Rauen KA
Clin Genet; 2003 May; 63(5):423-6. PubMed ID: 12752577
[TBL] [Abstract][Full Text] [Related]
16. Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
Zenker M; Voss E; Reis A
Eur J Med Genet; 2007; 50(1):43-7. PubMed ID: 17052965
[TBL] [Abstract][Full Text] [Related]
17. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
Makita Y; Narumi Y; Yoshida M; Niihori T; Kure S; Fujieda K; Matsubara Y; Aoki Y
J Pediatr Hematol Oncol; 2007 May; 29(5):287-90. PubMed ID: 17483702
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
Maheshwari M; Belmont J; Fernbach S; Ho T; Molinari L; Yakub I; Yu F; Combes A; Towbin J; Craigen WJ; Gibbs R
Hum Mutat; 2002 Oct; 20(4):298-304. PubMed ID: 12325025
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
