Journal of Medical Genetics: 41 (10)

Electronic letters

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
(1 October, 2004)
C Diesen, A Saarinen, H Pihko, C Rosenlew, B Cormand, W B Dobyns, J Dieguez, L Valanne, T Joensuu, A-E Lehesjoki

Recent advances in understanding haemochromatosis: a transition state (1 October, 2004)
K J H Robson, A T Merryweather-Clarke, E Cadet, V Viprakasit, M G Zaahl, J J Pointon, D J Weatherall, J Rochette

Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant
(1 October, 2004)
G H de Bock, M Schutte, E M M Krol-Warmerdam, C Seynaeve, J Blom, C T M Brekelmans, H Meijers-Heijboer, C J van Asperen, C J Cornelisse, P Devilee, R A E M Tollenaar, J G M Klijn
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (1 October, 2004)
V Cantagrel, A-M Lossi, S Boulanger, D Depetris, M-G Mattei, J Gecz, C E Schwartz, L Van Maldergem, L Villard
A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27 (1 October, 2004)
H Shen, Y-Y Zhang, J-R Long, F-H Xu, Y-Z Liu, P Xiao, L-J Zhao, D-H Xiong, Y-J Liu, V Dvornyk, S Rocha-Sanchez, P-Y Liu, J-L Li, T Conway, K M Davies, R R Recker, H-W Deng
Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians
(1 October, 2004)
P-Y Liu, Y Lu, J-R Long, F-H Xu, H Shen, R R Recker, H-W Deng
Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction
(1 October, 2004)
M C Cornelis, A El-Sohemy, H Campos

Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey (1 October, 2004)
P Charron, E Villard, P Sébillon, P Laforêt, T Maisonobe, L Duboscq-Bidot, N Romero, V Drouin-Garraud, T Frébourg, P Richard, B Eymard, M Komajda

Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
(1 October, 2004)
K Yamamoto, E Ishii, M Sako, S Ohga, K Furuno, N Suzuki, I Ueda, M Imayoshi, S Yamamoto, A Morimoto, H Takada, T Hara, S Imashuku, T Sasazuki, M Yasukawa
Identification of the gene for Nance-Horan syndrome (NHS) (1 October, 2004)
S P Brooks, N D Ebenezer, S Poopalasundaram, O J Lehmann, A T Moore, A J Hardcastle

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2. (1 October, 2004)
B Pal, M D Mohamed, T J Keen, G A Williams, J A Bradbury, E Sheridan, C F Inglehearn
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome
(1 October, 2004)
D Vallée, E Chevrier, G E Graham, M A Lazzaro, P A Lavigne, A G Hunter, D J Picketts
Mutations of the mitochondrial ND1 gene as a cause of MELAS
(1 October, 2004)
D M Kirby, R McFarland, A Ohtake, C Dunning, M T Ryan, C Wilson, D Ketteridge, D M Turnbull, D R Thorburn, R W Taylor
Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is protective against coronary heart disease (1 October, 2004)
D Lio, G Candore, A Crivello, L Scola, G Colonna-Romano, L Cavallone, E Hoffmann, M Caruso, F Licastro, C M Caldarera, A Branzi, C Franceschi, C Caruso
Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index (1 October, 2004)
A Dempfle, A Hinney, M Heinzel-Gutenbrunner, M Raab, F Geller, T Gudermann, H Schäfer, J Hebebrand