411 related articles for article (PubMed ID: 15001945)
1. 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]
2. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T; Yoshida R
Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. Genetics and variation in phenotype in Noonan syndrome.
Jongmans M; Otten B; Noordam K; van der Burgt I
Horm Res; 2004; 62 Suppl 3():56-9. PubMed ID: 15539800
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].
Klapecki J; Obersztyn E; Laniewski-Wollk M; Szpecht-Potocka A; Mazurczak T
Med Wieku Rozwoj; 2006; 10(1 Pt 2):289-308. PubMed ID: 17028394
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Kitsiou-Tzeli S; Papadopoulou A; Kanaka-Gantenbein C; Fretzayas A; Daskalopoulos D; Kanavakis E; Nicolaidou P
Horm Res; 2006; 66(3):124-31. PubMed ID: 16804314
[TBL] [Abstract][Full Text] [Related]
13. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM; Ekvall S; Strömberg B; Holmström G; Thuresson AC; Annerén G; Bondeson ML
Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
[TBL] [Abstract][Full Text] [Related]
14. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
Bertola DR; Pereira AC; Albano LM; De Oliveira PS; Kim CA; Krieger JE
Genet Test; 2006; 10(3):186-91. PubMed ID: 17020470
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene.
Abadir S; Edouard T; Julia S
Cardiol Young; 2007 Feb; 17(1):95-7. PubMed ID: 17184563
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
Binder G; Neuer K; Ranke MB; Wittekindt NE
J Clin Endocrinol Metab; 2005 Sep; 90(9):5377-81. PubMed ID: 15985475
[TBL] [Abstract][Full Text] [Related]
20. Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC; Pacileo G; Sarkozy A; Limongelli G; Conti E; Cerrato F; Marino B; Pizzuti A; Calabrò R; Dallapiccola B
Birth Defects Res A Clin Mol Teratol; 2004 Feb; 70(2):95-8. PubMed ID: 14991917
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
