Dermatology

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder

Journal of Medical Genetics Aug 2004, 41 (8) e105; DOI: 10.1136/jmg.2003.016121
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
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé

Journal of Medical Genetics Nov 2004, 41 (11) e117; DOI: 10.1136/jmg.2004.021451
A family with hereditary port wine stain
JONATHAN N BERG, A A QUABA, A GEORGANTOPOULOU, MARY E M PORTEOUS

Journal of Medical Genetics Aug 2000, 37 (8) e12; DOI: 10.1136/jmg.37.8.e12
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
U Hamann, X Liu, S Lange, H U Ulmer, A Benner, R J Scott

Journal of Medical Genetics Mar 2002, 39 (3) e12; DOI: 10.1136/jmg.39.3.e12
Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers
J Huang, S M Domchek, M S Brose, T R Rebbeck, K L Nathanson, B L Weber

Journal of Medical Genetics Nov 2004, 41 (11) e120; DOI: 10.1136/jmg.2004.022913
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects
R Zannolli, V Micheli, M A Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, P Terrosi Vagnoli, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A B Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J A Swift, M Zappella, G Morgese

Journal of Medical Genetics Nov 2003, 40 (11) e121; DOI: 10.1136/jmg.40.11.e121
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
G Borck, R Redon, D Sanlaville, M Rio, M Prieur, S Lyonnet, M Vekemans, N P Carter, A Munnich, L Colleaux, V Cormier-Daire

Journal of Medical Genetics Dec 2004, 41 (12) e128; DOI: 10.1136/jmg.2004.026666
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype
A C Offiah, S Mansour, I Jeffrey, R Nash, N Whittock, R Pyper, S Bewley, P T Clayton, C M Hall

Journal of Medical Genetics Dec 2003, 40 (12) e129; DOI: 10.1136/jmg.40.12.e129

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