JMG Online mutation reports

Expression analysis of an FGFR2 IIIc 5′ splice site mutation (1084+3A→G)
R Kan, S R F Twigg, J Berg, L Wang, F Jin, A O M Wilkie

Journal of Medical Genetics Aug 2004, 41 (8) e108; DOI: 10.1136/jmg.2004.018507
Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease
M Boniotto, L Braida, A Ventura, S Percopo, A Amoroso, S Crovella

Journal of Medical Genetics Sep 2003, 40 (9) e108; DOI: 10.1136/jmg.40.9.e108
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, S S Bhattacharya

Journal of Medical Genetics Aug 2004, 41 (8) e109; DOI: 10.1136/jmg.2004.020289
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis
A 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 Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski

Journal of Medical Genetics Jan 2004, 41 (1) e11; DOI: 10.1136/jmg.2003.010215
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, Ö Giray, F Silan, J Kohlhase

Journal of Medical Genetics Sep 2004, 41 (9) e113; DOI: 10.1136/jmg.2004.019901
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer
S-M Karppinen, K Heikkinen, K Rapakko, R Winqvist

Journal of Medical Genetics Sep 2004, 41 (9) e114; DOI: 10.1136/jmg.2004.020669
The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema
S-A Cumming, D J Halsall, P W Ewan, D A Lomas

Journal of Medical Genetics Oct 2003, 40 (10) e114; DOI: 10.1136/jmg.40.10.e114
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B
A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmüller, C R Müller

Journal of Medical Genetics Oct 2003, 40 (10) e115; DOI: 10.1136/jmg.40.10.e115
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region
H Kehrer-Sawatzki, S Tinschert, D E Jenne

Journal of Medical Genetics Oct 2003, 40 (10) e116; DOI: 10.1136/jmg.40.10.e116
BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer
J-H Sng, A B Ali, S C Lee, D Zahar, J E L Wong, V Blake, A Sharif, G Cross, P T C Iau

Journal of Medical Genetics Oct 2003, 40 (10) e117; DOI: 10.1136/jmg.40.10.e117

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