Dermatology

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
P F J Koppens, H J M Smeets, I J de Wijs, H J Degenhart

Journal of Medical Genetics May 2003, 40 (5) e53; DOI: 10.1136/jmg.40.5.e53
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia
I Wieland, P Muschke, S Jakubiczka, M Volleth, B Freigang, P F Wieacker

Journal of Medical Genetics May 2004, 41 (5) e54; DOI: 10.1136/jmg.2003.010587
The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
R A Whittall, S Matheus, T Cranston, G J Miller, S E Humphries

Journal of Medical Genetics Sep 2002, 39 (9) e57; DOI: 10.1136/jmg.39.9.e57
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino

Journal of Medical Genetics Dec 2006, 43 (12) e58; DOI: 10.1136/jmg.2006.043315
Significant involvement of CCR2–64I and CXCL12–3a in the development of sporadic breast cancer
A Zafiropoulos, N Crikas, A M Passam, D A Spandidos

Journal of Medical Genetics May 2004, 41 (5) e59; DOI: 10.1136/jmg.2003.013649
A common IL-1 complex haplotype is associated with an increased risk of atopy
T Pessi, J Karjalainen, J Hulkkonen, M M Nieminen, M Hurme

Journal of Medical Genetics May 2003, 40 (5) e66; DOI: 10.1136/jmg.40.5.e66
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
K Fukuchi, T Katsuya, K Sugimoto, M Kuremura, H D Kim, L Li, T Ogihara

Journal of Medical Genetics May 2004, 41 (5) e67; DOI: 10.1136/jmg.2003.014688
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, B Dallapiccola

Journal of Medical Genetics May 2004, 41 (5) e68; DOI: 10.1136/jmg.2003.013466
Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically?
M Al-Saffar, W D Foulkes

Journal of Medical Genetics Nov 2002, 39 (11) e68; DOI: 10.1136/jmg.39.11.e68
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson

Journal of Medical Genetics May 2003, 40 (5) e70; DOI: 10.1136/jmg.40.5.e70

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