Congenital heart disease

Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2
A Rauch, S Zink, C Zweier, C T Thiel, A Koch, R Rauch, J Lascorz, U Hüffmeier, M Weyand, H Singer, M Hofbeck

Journal of Medical Genetics Nov 2005, 42 (11) 871-876; DOI: 10.1136/jmg.2004.030619
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study
D Lambrechts, K Devriendt, D A Driscoll, E Goldmuntz, M Gewillig, R Vlietinck, D Collen, P Carmeliet

Journal of Medical Genetics Jun 2005, 42 (6) 519-522; DOI: 10.1136/jmg.2004.026443
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
S M Reamon-Buettner, J Borlak

Journal of Medical Genetics May 2005, 42 (5) e32; DOI: 10.1136/jmg.2004.025395
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski

Journal of Medical Genetics Apr 2005, 42 (4) 328-335; DOI: 10.1136/jmg.2004.028258
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek

Journal of Medical Genetics Feb 2005, 42 (2) e11; DOI: 10.1136/jmg.2004.024091
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
A Sarkozy, E Conti, C Neri, R D’Agostino, M C Digilio, G Esposito, A Toscano, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Feb 2005, 42 (2) e16; DOI: 10.1136/jmg.2004.026740
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
J D Hoffman, Y Zhang, J Greshock, K L Ciprero, B S Emanuel, E H Zackai, B L Weber, J E Ming

Journal of Medical Genetics Jan 2005, 42 (1) 49-53; DOI: 10.1136/jmg.2004.024372
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
S M Reamon-Buettner, J Borlak

Journal of Medical Genetics Sep 2004, 41 (9) 684-690; DOI: 10.1136/jmg.2003.017483
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
W Borozdin, M J Wright, R C M Hennekam, M C Hannibal, Y J Crow, T E Neumann, J Kohlhase

Journal of Medical Genetics Aug 2004, 41 (8) e102; DOI: 10.1136/jmg.2004.019505
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
A Okubo, O Miyoshi, K Baba, M Takagi, K Tsukamoto, A Kinoshita, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto

Journal of Medical Genetics Jul 2004, 41 (7) e97; DOI: 10.1136/jmg.2004.018895

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