Clinical genetics

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthièry, G Lenaers, D Bonneau

Journal of Medical Genetics Sep 2004, 41 (9) e110; DOI: 10.1136/jmg.2003.016576
Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes
Y Yan, M Wang, W J Lemon, M You

Journal of Medical Genetics Sep 2004, 41 (9) e111; DOI: 10.1136/jmg.2004.020016
An alternative to FISH: detecting deletion and duplication carriers within 24 hours
S J White, E Sterrenburg, G-J B van Ommen, J T den Dunnen, M H Breuning

Journal of Medical Genetics Oct 2003, 40 (10) e113; DOI: 10.1136/jmg.40.10.e113
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism
F J Serajee, R Nabi, H Zhong, A H M Mahbubul Huq

Journal of Medical Genetics Nov 2003, 40 (11) e119; DOI: 10.1136/jmg.40.11.e119
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
J V Warner, D R Nyholt, F Busfield, M Epstein, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, B T Teh, J B Prins, J W Cardinal

Journal of Medical Genetics Mar 2006, 43 (3) e12; DOI: 10.1136/jmg.2005.035766
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen

Journal of Medical Genetics Feb 2005, 42 (2) e12; DOI: 10.1136/jmg.2004.023804
Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype
M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, P K-H Tam

Journal of Medical Genetics Nov 2003, 40 (11) e122; DOI: 10.1136/jmg.40.11.e122
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure
E Matichard, P Verpillat, R Meziani, B Gérard, V Descamps, E Legroux, M Burnouf, G Bertrand, F Bouscarat, A Archimbaud, C Picard, L Ollivaud, N Basset-Seguin, D Kerob, G Lanternier, C Lebbe, B Crickx, B Grandchamp, N Soufir

Journal of Medical Genetics Feb 2004, 41 (2) e13; DOI: 10.1136/jmg.2003.011536
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
M Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S Vohanka, J Toman, D Toniolo

Journal of Medical Genetics Dec 2003, 40 (12) e132; DOI: 10.1136/jmg.40.12.e132
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula

Journal of Medical Genetics Feb 2004, 41 (2) e15; DOI: 10.1136/jmg.2003.009274

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