Ethics

A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, E Pras

Journal of Medical Genetics Jan 2002, 39 (1) 54-57; DOI: 10.1136/jmg.39.1.54
Preimplantation genetic diagnosis in clinical practice
E Kanavakis, J Traeger-Synodinos

Journal of Medical Genetics Jan 2002, 39 (1) 6-11; DOI: 10.1136/jmg.39.1.6
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
Paal Skytt Andersen, Ole Havndrup, Henning Bundgaard, Johanna Catharina Moolman-Smook, Lars Allan Larsen, Jens Mogensen, Paul Andries Brink, Anders Dupont Børglum, Valerie Ann Corfield, Keld Kjeldsen, Jens Vuust, Michael Christiansen

Journal of Medical Genetics Dec 2001, 38 (12) e43; DOI: 10.1136/jmg.38.12.e43
De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity
S James Talks, Neil Ebenezer, Phil Hykin, Gill Adams, Fung Yang, E Schulenberg, Kevin Gregory-Evans, Cheryl Y Gregory-Evans

Journal of Medical Genetics Dec 2001, 38 (12) e46; DOI: 10.1136/jmg.38.12.e46
Wolfram syndrome: a clinical and molecular genetic analysis
Philipp Eller, Bernhard Föger, Roland Gander, Teresa Sauper, Monika Lechleitner, Gerd Finkenstedt, Josef R Patsch

Journal of Medical Genetics Nov 2001, 38 (11) e37; DOI: 10.1136/jmg.38.11.e37
Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material
Tohru Yorifuji, Junko Muroi, Mitsukazu Mamada, Ayumi Uematsu, Masahiko Kawai, Toru Momoi, Masayuki Kaji, Chutaro Yamanaka, Tatsutoshi Nakahata

Journal of Medical Genetics Nov 2001, 38 (11) e41; DOI: 10.1136/jmg.38.11.e41
The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications
Clara Ruiz-Ponte, Ana Vega, Roberto Conde, Francisco Barros, Angel Carracedo

Journal of Medical Genetics Oct 2001, 38 (10) e33; DOI: 10.1136/jmg.38.10.e33
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
Myrna Mustapha, Nabiha Salem, Valérie Delague, Eliane Chouery, Michella Ghassibeh, Myriam Rai, Jacques Loiselet, Christine Petit, André Mégarbané

Journal of Medical Genetics Oct 2001, 38 (10) e36; DOI: 10.1136/jmg.38.10.e36
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene
Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, Jing-Houng Wang

Journal of Medical Genetics Jul 2001, 38 (7) e23; DOI: 10.1136/jmg.38.7.e23
Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders
Elmar Kirches, Matthias Michael, Michaela Warich-Kirches, Thomas Schneider, Serge Weis, Guido Krause, Christian Mawrin, Knut Dietzmann

Journal of Medical Genetics May 2001, 38 (5) 312-317; DOI: 10.1136/jmg.38.5.312

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