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BMJ Journals

Table of contents

December 2006 - Volume 43 - 12

Journal of Medical Genetics: 43 (12)

Electronic letters

Comprehensive diagnosis of Rett’s syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients (1 December, 2006)
Y Petel-Galil, B Ben-Zeev, I Greenbaum, M Vecsler, B Goldman, H Lohi, B A Minassian, E Gak
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family (1 December, 2006)
Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, M B Petersen, K Zhang

Online mutation report

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family (1 December, 2006)
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino

Review

The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis (11 August, 2006) Free
Sonia Abilleira, Steve Bevan, Hugh S Markus

Original articles

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region (6 July, 2006)
S Rossignol, V Steunou, C Chalas, A Kerjean, M Rigolet, E Viegas-Pequignot, P Jouannet, Y Le Bouc, C Gicquel
Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 gene (2 August, 2006) Free
C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, B Keeton
Three single-nucleotide polymorphisms in LPA account for most of the increase in lipoprotein(a) level elevation in African Americans compared with European Americans
(13 July, 2006)
J-P Chretien, J Coresh, Y Berthier-Schaad, W H L Kao, N E Fink, M J Klag, S M Marcovina, F Giaculli, M W Smith
Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene (31 May, 2006)
Van Khanh Tran, Yasuhiro Takeshima, Zhujun Zhang, Mariko Yagi, Atsushi Nishiyama, Yasuaki Habara, Masafumi Matsuo

Miscellaneous

Intestinal permeability in families with Crohn’s disease (1 December, 2006)

Short report

New Alzheimer’s disease locus on chromosome 8 (6 July, 2006)
V Giedraitis, M Hedlund, L Skoglund, E Blom, S Ingvast, R Brundin, L Lannfelt, A Glaser

Letters to JMG

AMP-kinase α2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women
(26 June, 2006) Free
N J Spencer-Jones, D Ge, H Snieder, U Perks, R Swaminathan, T D Spector, N D Carter, S D O’Dell
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk (1 December, 2006)
S E Humphries, R A Whittall, C S Hubbart, S Maplebeck, J A Cooper, A K Soutar, R Naoumova, G R Thompson, M Seed, P N Durrington, J P Miller, D J B Betteridge, H A W Neil
MDM2 SNP309 accelerates colorectal tumour formation in women (6 July, 2006)
Gareth L Bond, Chiara Menin, Roberta Bertorelle, Pia Alhopuro, Lauri A Aaltonen, Arnold J Levine
Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis (6 July, 2006)
A Santoro, S Cannella, G Bossi, F Gallo, A Trizzino, D Pende, F Dieli, G Bruno, J C Stinchcombe, C Micalizzi, C De Fusco, C Danesino, L Moretta, L D Notarangelo, G M Griffiths, M Aricò

Issue Information

Table of Contents (PDF)