Journal of Medical Genetics: 43 (11)

Online mutation reports

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene (3 November, 2006)
M Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II (3 November, 2006)
E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, J M Millán

The cardiofaciocutaneous syndrome (6 July, 2006) Free
A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, G Neri

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders (13 July, 2006)
M-L Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, S Lyonnet, J Amiel, M Le Merrer, D Heron, M-C de Blois, M Prieur, M Vekemans, N P Carter, A Munnich, L Colleaux, A Philippe
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
(13 July, 2006)
H-H M Dahl, S E Tobin, Z Poulakis, F W Rickards, X Xu, L Gillam, J Williams, K Saunders, B Cone-Wesson, M Wake
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
(6 July, 2006)
S-M Karppinen, R B Barkardottir, K Backenhorn, T Sydenham, K Syrjäkoski, J Schleutker, T Ikonen, K Pylkäs, K Rapakko, H Erkko, G Johannesdottir, A-M Gerdes, M Thomassen, B A Agnarsson, M Grip, A Kallioniemi, J Kere, L A Aaltonen, A Arason, P Møller, T A Kruse, Å Borg, R Winqvist

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer (31 October, 2006)
C Cybulski, D Wokołorczyk, T Huzarski, T Byrski, J Gronwald, B Górski, T Dębniak, B Masojć, A Jakubowska, B Gliniewicz, A Sikorski, M Stawicka, D Godlewski, Z Kwias, A Antczak, K Krajka, W Lauer, M Sosnowski, P Sikorska-Radek, K Bar, R Klijer, R Zdrojowy, B Małkiewicz, A Borkowski, T Borkowski, M Szwiec, S A Narod, J Lubiński

CDH1/E-cadherin germline mutations in early-onset gastric cancer
(26 June, 2006)
J T Bacani, M Soares, R Zwingerman, N di Nicola, J Senz, R Riddell, D G Huntsman, S Gallinger
A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families (6 July, 2006)
H Shen, J-R Long, D-H Xiong, Y-F Guo, P Xiao, Y-Z Liu, L-J Zhao, Y-J Liu, H-Y Deng, J-L Li, R R Recker, H-W Deng
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency (31 May, 2006)
R Hinttala, R Smeets, J S Moilanen, C Ugalde, J Uusimaa, J A M Smeitink, K Majamaa
Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia (8 June, 2006)
J L Seal, M C Gornick, N Gogtay, P Shaw, D K Greenstein, M Coffey, P A Gochman, T Stromberg, Z Chen, B Merriman, S F Nelson, J Brooks, S Arepalli, F Wavrant-De Vrièze, J Hardy, J L Rapoport, A M Addington
Polyalanine and polyserine frameshift products in Huntington’s disease (26 June, 2006)
J E Davies, D C Rubinsztein