Reproductive medicine

Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease
Luk W Ho, Rosemary Brown, Michelle Maxwell, Andreas Wyttenbach, David C Rubinsztein

Journal of Medical Genetics Jul 2001, 38 (7) 450-452; DOI: 10.1136/jmg.38.7.450
A novel acropectoral syndrome maps to chromosome 7q36
Munis Dundar, Tilda M Gordon, Irfan Ozyazgan, Fahri Oguzkaya, Yusuf Ozkul, Alexander Cooke, A Graham Wilkinson, Susan Holloway, Frances R Goodman, John L Tolmie

Journal of Medical Genetics May 2001, 38 (5) 304-309; DOI: 10.1136/jmg.38.5.304
A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia
Petra L M Zusterzeel, Wilbert H M Peters, Willy Visser, Kristel J M Hermsen, Hennie M J Roelofs, Eric A P Steegers

Journal of Medical Genetics Apr 2001, 38 (4) 234-237; DOI: 10.1136/jmg.38.4.234
A new case of exomphalos, short limbs, and macrogonadism syndrome
G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, D CABROL

Journal of Medical Genetics Mar 2001, 38 (3) e8; DOI: 10.1136/jmg.38.3.e8
DEFECT 11 syndrome associated with agenesis of the corpus callosum
TOSHIYUKI YAMAMOTO, SHINJIROU AKABOSHI, HARUAKI NINOMIYA, EIJI NANBA

Journal of Medical Genetics Feb 2001, 38 (2) e5; DOI: 10.1136/jmg.38.2.e5
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
ROBERTA CINTI, MANUELA PRIOLO, MARGHERITA LERONE, GIORGIO GIMELLI, MARCO SERI, MARGHERITA SILENGO, ROBERTO RAVAZZOLO

Journal of Medical Genetics Feb 2001, 38 (2) e6; DOI: 10.1136/jmg.38.2.e6
Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer
LOVEENA VERMA, TIMOTHY R PORTER, FRANCES M RICHARDS, M HELEN RAJPAR, D GARETH R EVANS, FIONA MACDONALD, EAMONN R MAHER

Journal of Medical Genetics Feb 2001, 38 (2) e7; DOI: 10.1136/jmg.38.2.e7
SHOX haploinsufficiency and overdosage: impact of gonadal function status
Tsutomu Ogata, Nobutake Matsuo, Gen Nishimura

Journal of Medical Genetics Jan 2001, 38 (1) 1-6; DOI: 10.1136/jmg.38.1.1
Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation
RUTH V MIKELSAAR, KADI VARB, ANNELI SÜVARI, ALBERT SCHINZEL

Journal of Medical Genetics Jan 2001, 38 (1) e2; DOI: 10.1136/jmg.38.1.e2
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
KRYSTYNA H CHRZANOWSKA, MARKUS STUMM, MONIKA BEKIESIŃSKA-FIGATOWSKA, RAYMONDA VARON, MAGDALENA BIAŁECKA, HANNA GREGOREK, JACEK MICHAŁKIEWICZ, MAŁGORZATA KRAJEWSKA-WALASEK, SERGIUSZ JÓŹWIAK, ANDRÉ REIS

Journal of Medical Genetics Jan 2001, 38 (1) e3; DOI: 10.1136/jmg.38.1.e3

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