135 related articles for article (PubMed ID: 23513489)
1. [Clinical and molecular study of the Noonan syndrome].
Cammarata-Scalisi F; Neri G; Pomponi MG; Mancano G; Da Silva G; Avendaño A; Lacruz-Rengel MA; Stock F; Sosa A
Invest Clin; 2012 Dec; 53(4):395-401. PubMed ID: 23513489
[TBL] [Abstract][Full Text] [Related]
2. A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.
Demir K; Yntema HG; Altincik A; Böber E
Turk J Pediatr; 2010; 52(3):321-4. PubMed ID: 20718194
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Variability in clinical expression of Noonan syndrome--the report of two familial cases].
Klapecki J; Obersztyn E; Łaniewski-Wołłk M; Szpecht-Potocka A; Mazurczak T
Wiad Lek; 2008; 61(1-3):74-81. PubMed ID: 18717048
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
Jamieson CR; van der Burgt I; Brady AF; van Reen M; Elsawi MM; Hol F; Jeffery S; Patton MA; Mariman E
Nat Genet; 1994 Dec; 8(4):357-60. PubMed ID: 7894486
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Noonan syndrome.
Turner AM
J Paediatr Child Health; 2014 Oct; 50(10):E14-20. PubMed ID: 21771153
[TBL] [Abstract][Full Text] [Related]
16. Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA; Allanson JE; Dahlgren J; Gelb BD; Hall B; Pierpont ME; Roberts AE; Robinson W; Takemoto CM; Noonan JA
Pediatrics; 2010 Oct; 126(4):746-59. PubMed ID: 20876176
[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. Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.
González-Huerta NC; Valdés-Miranda JM; Pérez-Cabrera A; Pacheco-Cuellar G; González-Huerta LM; Cuevas-Covarrubias SA
J Matern Fetal Neonatal Med; 2010 Jul; 23(7):688-91. PubMed ID: 20064076
[TBL] [Abstract][Full Text] [Related]
19. Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.
Mathur D; Somashekar S; Navarrete C; Rodriguez MM
Fetal Pediatr Pathol; 2014 Aug; 33(4):253-7. PubMed ID: 24754368
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
