Clinical genetics

Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants
M C van Maarle, M E A Stouthard, G J Bonsel

Journal of Medical Genetics Jan 2003, 40 (1) e3; DOI: 10.1136/jmg.40.1.e3
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
J C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson

Journal of Medical Genetics May 2005, 42 (5) e30; DOI: 10.1136/jmg.2004.027300
A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3
D J Verlaan, M-P Dubé, J St-Onge, A Noreau, J Roussel, N Satgé, M C Wallace, G A Rouleau

Journal of Medical Genetics Jun 2006, 43 (6) e31; DOI: 10.1136/jmg.2005.033209
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3
Q J Wang, Q Z Li, S Q Rao, K Lee, X S Huang, W Y Yang, S Q Zhai, W W Guo, Y F Guo, N Yu, Y L Zhao, H Yuan, J Guan, S M Leal, D Y Han, Y Shen

Journal of Medical Genetics Jul 2006, 43 (7) e33; DOI: 10.1136/jmg.2005.037929
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1
T J L DE RAVEL, G MATTHIJS, M HOLVOET, C WOUTERS, E LEGIUS, J P FRYNS

Journal of Medical Genetics Nov 2000, 37 (11) e34; DOI: 10.1136/jmg.37.11.e34
A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
A S Brooks, P A Leegwater, G M Burzynski, P J Willems, B de Graaf, I van Langen, P Heutink, B A Oostra, R M W Hofstra, A M Bertoli-Avella

Journal of Medical Genetics Jul 2006, 43 (7) e35; DOI: 10.1136/jmg.2005.038125
Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1–4 for identification of candidate genes
W J Lemon, C H Swinton, M Wang, N Berbari, Y Wang, M You

Journal of Medical Genetics Apr 2003, 40 (4) e36; DOI: 10.1136/jmg.40.4.e36
Familial craniofacial fibrous dysplasia: absence of linkage toGNAS1 and the gene for cherubism
JONATHAN MANGION, SARAH EDKINS, ALASTAIR N GOSS, MICHAEL R STRATTON, ADRIENNE M FLANAGAN

Journal of Medical Genetics Nov 2000, 37 (11) e37; DOI: 10.1136/jmg.37.11.e37
DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome
J Deinum, G C H Steenbergen-Spanjers, M Jansen, F Boomsma, J W M Lenders, F J van Ittersum, N Hück, L P van den Heuvel, R A Wevers

Journal of Medical Genetics Apr 2004, 41 (4) e38; DOI: 10.1136/jmg.2003.009282
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

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