Journal of Medical Genetics: 41 (2)

Electronic letters

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure
(2 February, 2004) Free
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
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci (2 February, 2004) Free
S Modamio-Høybjør, M A Moreno-Pelayo, A Mencía, I del Castillo, S Chardenoux, D Morais, M Lathrop, C Petit, F Moreno

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
(2 February, 2004) Free
M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula
Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity (2 February, 2004) Free
P Cerruti Mainardi, G Pastore, C Zweier, A Rauch
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype (2 February, 2004) Free
M M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz
Loss of five amino acids in BRCA2 is associated with ovarian cancer
(2 February, 2004) Free
S L Martinez, J Herzog, J N Weitzel
Mitochondrial DNA deletion in “identical” twin brothers (2 February, 2004) Free
E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
(2 February, 2004) Free
S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt
Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
(2 February, 2004) Free
D G R Evans, S L Neuhausen, M Bulman, K Young, D Gokhale, F Lalloo

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
(2 February, 2004) Free
L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, J Smet, R Van Coster
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
(2 February, 2004) Free
K Szigeti, L-J C Wong, C-L Perng, G M Saifi, K Eldin, A M Adesina, D L Cass, M Hirano, J R Lupski, F Scaglia

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation (2 February, 2004) Free
N Harada, E Hatchwell, N Okamoto, M Tsukahara, K Kurosawa, H Kawame, T Kondoh, H Ohashi, R Tsukino, Y Kondoh, O Shimokawa, T Ida, T Nagai, Y Fukushima, K Yoshiura, N Niikawa, N Matsumoto
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
(2 February, 2004) Free
S Molleran Lee, J Villanueva, J Sumegi, K Zhang, K Kogawa, J Davis, A H Filipovich