349 related articles for article (PubMed ID: 24183200)
1. Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.
Essawi ML; Ismail MF; Afifi HH; Kobesiy MM; El Kotoury A; Barakat MM
J Formos Med Assoc; 2013 Nov; 112(11):707-12. PubMed ID: 24183200
[TBL] [Abstract][Full Text] [Related]
2. Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
Hung CS; Lin JL; Lee YJ; Lin SP; Chao MC; Lo FS
J Formos Med Assoc; 2007 Feb; 106(2):169-72. PubMed ID: 17339163
[TBL] [Abstract][Full Text] [Related]
3. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
Kosaki K; Suzuki T; Muroya K; Hasegawa T; Sato S; Matsuo N; Kosaki R; Nagai T; Hasegawa Y; Ogata T
J Clin Endocrinol Metab; 2002 Aug; 87(8):3529-33. PubMed ID: 12161469
[TBL] [Abstract][Full Text] [Related]
4. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil AS; Pereira AC; Wanderley LT; Kim CA; Malaquias AC; Jorge AA; Krieger JE; Bertola DR
Genet Test Mol Biomarkers; 2010 Jun; 14(3):425-32. PubMed ID: 20578946
[TBL] [Abstract][Full Text] [Related]
9. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
Gulec EY; Ocak Z; Candan S; Ataman E; Yarar C
Int J Cardiol; 2015; 186():13-5. PubMed ID: 25804457
[No Abstract] [Full Text] [Related]
10. [Mutation analysis of PTPN11 gene in Noonan syndrome].
Yang T; Meng Y; Shi HP; Zhao SM; Wang G; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Oct; 27(5):554-8. PubMed ID: 20931536
[TBL] [Abstract][Full Text] [Related]
11. Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
Rodríguez FA; Unanue N; Hernández MI; Heath KE; Cassorla F
J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):305-9. PubMed ID: 24150203
[TBL] [Abstract][Full Text] [Related]
12. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
Narayanan DL; Pandey H; Moirangthem A; Mandal K; Gupta R; Puri RD; Patil SJ; Phadke SR
Indian Pediatr; 2017 Aug; 54(8):638-643. PubMed ID: 28607217
[TBL] [Abstract][Full Text] [Related]
13. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M; Kalidas K; Shaw A; Song X; Musat DL; van der Burgt I; Brunner HG; Bertola DR; Crosby A; Ion A; Kucherlapati RS; Jeffery S; Patton MA; Gelb BD
Am J Hum Genet; 2002 Jun; 70(6):1555-63. PubMed ID: 11992261
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Papadopoulou A; Issakidis M; Gole E; Kosma K; Fryssira H; Fretzayas A; Nicolaidou P; Kitsiou-Tzeli S
Eur J Pediatr; 2012 Jan; 171(1):51-8. PubMed ID: 21590266
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Autoimmune liver disease in Noonan Syndrome.
Loddo I; Romano C; Cutrupi MC; Sciveres M; Riva S; Salpietro A; Ferraù V; Gallizzi R; Briuglia S
Eur J Med Genet; 2015 Mar; 58(3):188-90. PubMed ID: 25595571
[TBL] [Abstract][Full Text] [Related]
20. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
Tartaglia M; Cordeddu V; Chang H; Shaw A; Kalidas K; Crosby A; Patton MA; Sorcini M; van der Burgt I; Jeffery S; Gelb BD
Am J Hum Genet; 2004 Sep; 75(3):492-7. PubMed ID: 15248152
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
