Congenital heart disease

Citations 11-20 of 67 total displayed.

Review
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

M Carlson, M Silberbach
J. Med. Genet. 2007 44: 745 -749; published online before print as 10.1136/jmg.2007.052019 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Original articles
GATA4 sequence variants in patients with congenital heart disease

A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz
J. Med. Genet. 2007; 44: 779-783. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

H Lubs, F E Abidi, R Echeverri, L Holloway, A Meindl, R E Stevenson, C E Schwartz
J. Med. Genet. 2006; 43: e30. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene

C A Hobbs, S J James, A Parsian, P A Krakowiak, S Jernigan, J J Greenhaw, Y Lu, M A Cleves
J. Med. Genet. 2006 43: 162 -166; published online before print as 10.1136/jmg.2005.032656 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2005 42: 871 -876; published online before print as 10.1136/jmg.2004.030619 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2005; 42: 519-522. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart

S M Reamon-Buettner, J Borlak
J. Med. Genet. 2005; 42: e32. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2005; 42: 328-335. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
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
J. Med. Genet. 2005; 42: e11. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
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
J. Med. Genet. 2005; 42: e16. [Extract] [Full text] [PDF] [Request Permissions]