Congenital heart disease

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
Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects
R Voigt, M Maier-Weidmann, P E Lange, T Haaf

Journal of Medical Genetics Apr 2002, 39 (4) e16; DOI: 10.1136/jmg.39.4.e16
Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22
GHAZALA MIRZA, KIYOSHI IMAIZUMI, JIANNIS RAGOUSSIS

Journal of Medical Genetics Sep 2000, 37 (9) e22; DOI: 10.1136/jmg.37.9.e22
DiGeorge syndrome with discordant phenotype in monozygotic twins
G HILLEBRAND, R SIEBERT, E SIMEONI, R SANTER

Journal of Medical Genetics Sep 2000, 37 (9) e23; DOI: 10.1136/jmg.37.9.e23
Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation
I Rost, H Fiegler, C Fauth, P Carr, T Bettecken, J Kraus, C Meyer, A Enders, A Wirtz, T Meitinger, N P Carter, M R Speicher

Journal of Medical Genetics Mar 2004, 41 (3) e26; DOI: 10.1136/jmg.2003.011833
Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report
A Nietzel, B Albrecht, H Starke, A Heller, G Gillessen-Kaesbach, U Claussen, T Liehr

Journal of Medical Genetics Mar 2003, 40 (3) e28; DOI: 10.1136/jmg.40.3.e28
Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome
C Fan, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, Q Wang

Journal of Medical Genetics Mar 2003, 40 (3) e29; DOI: 10.1136/jmg.40.3.e29
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

Journal of Medical Genetics Jun 2006, 43 (6) e30; DOI: 10.1136/jmg.2005.037556
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
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, M Hofbeck

Journal of Medical Genetics Apr 2004, 41 (4) e40; DOI: 10.1136/jmg.2003.010975

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Congenital heart disease

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