Clinical genetics

CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families
A L King, S J Moodie, J S Fraser, D Curtis, E Reid, A M Dearlove, H J Ellis, P J Ciclitira

Journal of Medical Genetics Jan 2002, 39 (1) 51-54; DOI: 10.1136/jmg.39.1.51
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
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients
C Grayson, J P Chapple, K R Willison, A R Webster, A J Hardcastle, M E Cheetham

Journal of Medical Genetics Jan 2002, 39 (1) 62-67; DOI: 10.1136/jmg.39.1.62
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
Seyed M Akrami, Robin M Winter, J David Brook, John A L Armour

Journal of Medical Genetics Dec 2001, 38 (12) e44; DOI: 10.1136/jmg.38.12.e44
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
Weilong Gong, Shoshanna Gottlieb, Joelle Collins, Adam Blescia, Harry Dietz, Elizabeth Goldmuntz, Donna M McDonald-McGinn, Elaine H Zackai, Beverly S Emanuel, Deborah A Driscoll, Marcia L Budarf

Journal of Medical Genetics Dec 2001, 38 (12) e45; DOI: 10.1136/jmg.38.12.e45
Hirschsprung disease, associated syndromes, and genetics: a review
Jeanne Amiel, Stanislas Lyonnet

Journal of Medical Genetics Nov 2001, 38 (11) 729-739; DOI: 10.1136/jmg.38.11.729
Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM
Shirley Rainier, Peter Hedera, David Alvarado, Xinping Zhao, Kleopas A Kleopa, Terry Heiman-Patterson, John K Fink

Journal of Medical Genetics Nov 2001, 38 (11) e39; DOI: 10.1136/jmg.38.11.e39
A dominant gene for developmental dyslexia on chromosome 3
Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, Elisabeth Widén

Journal of Medical Genetics Oct 2001, 38 (10) 658-664; DOI: 10.1136/jmg.38.10.658
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Daniel J Hampshire, Emma Roberts, Yanick Crow, Jacquelyn Bond, Ammar Mubaidin, Abdul-Latif Wriekat, Amir Al-Din, C Geoffrey Woods

Journal of Medical Genetics Oct 2001, 38 (10) 680-682; DOI: 10.1136/jmg.38.10.680

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