JMG Online mutation reports

Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples
I Sumitsuji, K Sugano, T Matsui, N Fukayama, K Yamaguchi, T Akasu, S Fujita, Y Moriya, R Yokoyama, S Nomura, T Yoshida, T Kodama, M Ogawa

Journal of Medical Genetics Mar 2003, 40 (3) e30; DOI: 10.1136/jmg.40.3.e30
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
A M Woodward, T A Davis, A G S Silva, J A Kirk, J A Leary

Journal of Medical Genetics May 2005, 42 (5) e31; DOI: 10.1136/jmg.2004.027961
Extending the p16-Leiden tumour spectrum by respiratory tract tumours
R A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, H Morreau

Journal of Medical Genetics Mar 2004, 41 (3) e31; DOI: 10.1136/jmg.2003.012336
Relationship between genotype and phenotype for the CFTR gene W846X mutation
I Duguépéroux, G Bellis, C Férec, D Gillet, V Scotet, M De Braekeleer

Journal of Medical Genetics Jun 2002, 39 (6) e32; DOI: 10.1136/jmg.39.6.e32
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
A Villablanca, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten, B T Teh, B G Robinson, C Larsson

Journal of Medical Genetics Mar 2004, 41 (3) e32; DOI: 10.1136/jmg.2003.012369
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis
C Falcinelli, L Iughetti, A Percesepe, G Calabrese, F Chiarelli, M Cisternino, L De Sanctis, I Pucarelli, G Radetti, M Wasniewska, G Weber, L Stuppia, S Bernasconi, A Forabosco

Journal of Medical Genetics Jun 2002, 39 (6) e33; DOI: 10.1136/jmg.39.6.e33
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson

Journal of Medical Genetics Mar 2004, 41 (3) e33; DOI: 10.1136/jmg.2003.014274
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi

Journal of Medical Genetics Mar 2004, 41 (3) e34; DOI: 10.1136/jmg.2003.013714
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
M C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy

Journal of Medical Genetics Mar 2004, 41 (3) e35; DOI: 10.1136/jmg.2003.013938

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