Congenital heart disease

A locus for isolated cataract on human Xp
P J Francis, V Berry, A J Hardcastle, E R Maher, A T Moore, S S Bhattacharya

Journal of Medical Genetics Feb 2002, 39 (2) 105-109; DOI: 10.1136/jmg.39.2.105
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
A Karmiloff-Smith, J Grant, S Ewing, M J Carette, K Metcalfe, D Donnai, A P Read, M Tassabehji

Journal of Medical Genetics Feb 2003, 40 (2) 136-140; DOI: 10.1136/jmg.40.2.136
Microdeletion 22q11 and oesophageal atresia
Maria Cristina Digilio, Bruno Marino, Pietro Bagolan, Aldo Giannotti, Bruno Dallapiccola

Journal of Medical Genetics Feb 1999, 36 (2) 137-139; DOI: 10.1136/jmg.36.2.137
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
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

Journal of Medical Genetics Feb 2006, 43 (2) 162-166; DOI: 10.1136/jmg.2005.032656
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
C M Armour, J E Allanson

Journal of Medical Genetics Apr 2008, 45 (4) 249-254; DOI: 10.1136/jmg.2007.054460
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
Asaf Ta-Shma, Nael El-lahham, Simon Edvardson, Polina Stepensky, Amiram Nir, Zeev Perles, Sagui Gavri, Julius Golender, Nurit Yaakobi-Simhayoff, Avraham Shaag, Azaria J J T Rein, Orly Elpeleg

Journal of Medical Genetics Apr 2014, 51 (4) 268-270; DOI: 10.1136/jmedgenet-2013-102100
Genetics of arrhythmogenic right ventricular cardiomyopathy
Oscar Campuzano, Mireia Alcalde, Catarina Allegue, Anna Iglesias, Pablo García-Pavía, Sara Partemi, Antonio Oliva, Vincenzo L Pascali, Paola Berne, Georgia Sarquella-Brugada, Josep Brugada, Pedro Brugada, Ramon Brugada

Journal of Medical Genetics May 2013, 50 (5) 280-289; DOI: 10.1136/jmedgenet-2013-101523
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi

Journal of Medical Genetics Apr 2003, 40 (4) 285-289; DOI: 10.1136/jmg.40.4.285
Mowat-Wilson syndrome
D R Mowat, M J Wilson, M Goossens

Journal of Medical Genetics May 2003, 40 (5) 305-310; DOI: 10.1136/jmg.40.5.305

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