Congenital heart disease

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Sep 2003, 40 (9) 704-708; DOI: 10.1136/jmg.40.9.704
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch

Journal of Medical Genetics Aug 2003, 40 (8) 601-605; DOI: 10.1136/jmg.40.8.601
Further support for digenic inheritance in Bardet-Biedl syndrome
S Fauser, M Munz, D Besch

Journal of Medical Genetics Aug 2003, 40 (8) e104; DOI: 10.1136/jmg.40.8.e104
Is growth hormone treatment beneficial or harmful in Costello syndrome?
B Kerr, M A Einaudi, P Clayton, G Gladman, T Eden, P Saunier, D Genevieve, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) e74; DOI: 10.1136/jmg.40.6.e74
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
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9
G Andelfinger, K N Wright, H S Lee, L M Siemens, D W Benson

Journal of Medical Genetics May 2003, 40 (5) 320-324; DOI: 10.1136/jmg.40.5.320
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome
M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll

Journal of Medical Genetics May 2003, 40 (5) e62; DOI: 10.1136/jmg.40.5.e62
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
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

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