Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian familiesD G R Evans, S L Neuhausen, M Bulman, K Young, D Gokhale, F Lalloo
2 February 2004
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposisA Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brożek, D Nowakowska, E Czkwaniec, P KrokowiczSee the full list of authors
16 January 2004
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1AK Goto, I Nishino, Y K Hayashi
16 January 2004
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple foundersK Ohno, A G Engel
16 January 2004
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing lossI Nagy, M Horváth, M Trexler, G Répássy, L Patthy
16 January 2004
Clinical and genetic characteristics of α cardiac actin gene mutations in hypertrophic cardiomyopathyJ Mogensen, A Perrot, P S Andersen, O Havndrup, I C Klausen, M Christiansen, P Bross, H Egeblad, H Bundgaard, K J Osterziel, G Haltern, H Lapp, P Reinecke, N Gregersen, A D Børglum
16 January 2004
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypesM Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S VohankaSee the full list of authors
18 December 2003
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 geneI Dianzani, E Garelli, P Gustavsson, A Carando, B Gustafsson, N Dahl, G Annerén
18 December 2003
Diagnosis of gene dosage alterations at the PMP22 gene using MAPHS M Akrami, J S Rowland, G R Taylor, J A L Armour
19 November 2003
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataractC E Willoughby, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, E Héon
19 November 2003