Arrhythmias

Is the locus for Costello syndrome on 11p?
B Kerr, M L Mucchielli, S Sigaudy, M Fabre, P Saunier, M A Voelckel, E Howard, R Elles, T O B Eden, G C Black, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) 469-471; DOI: 10.1136/jmg.40.6.469
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, P Pigny

Journal of Medical Genetics Jun 2003, 40 (6) e75; DOI: 10.1136/jmg.40.6.e75
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
I M Van Langen, E Birnie, M Alders, R J Jongbloed, H Le Marec, A A M Wilde

Journal of Medical Genetics Feb 2003, 40 (2) 141-145; DOI: 10.1136/jmg.40.2.141
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family
S Chen, M K Chung, D Martin, R Rozich, P J Tchou, Q Wang

Journal of Medical Genetics Dec 2002, 39 (12) 913-915; DOI: 10.1136/jmg.39.12.913
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
Y Watanabe, D W Benson, S Yano, T Akagi, M Yoshino, J C Murray

Journal of Medical Genetics Nov 2002, 39 (11) 807-811; DOI: 10.1136/jmg.39.11.807
Mutation in KCNQ1 that has both recessive and dominant characteristics
A Murray, F Potet, C Bellocq, I Baró, W Reardon, H E Hughes, S Jeffery

Journal of Medical Genetics Sep 2002, 39 (9) 681-685; DOI: 10.1136/jmg.39.9.681
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Channelopathies: ion channel defects linked to heritable clinical disorders
Ricardo Felix

Journal of Medical Genetics Oct 2000, 37 (10) 729-740; DOI: 10.1136/jmg.37.10.729

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