Dermatology

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis
F Capon, C Helms, C D Veal, D Tillman, A D Burden, J N Barker, A M Bowcock, R C Trembath

Journal of Medical Genetics Jun 2004, 41 (6) 459-460; DOI: 10.1136/jmg.2004.018226
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi

Journal of Medical Genetics Jun 2004, 41 (6) e71; DOI: 10.1136/jmg.2003.012260
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire

Journal of Medical Genetics Jun 2004, 41 (6) e77; DOI: 10.1136/jmg.2003.013573
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
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
Genotype–phenotype correlations in Peutz-Jeghers syndrome
C I Amos, M B Keitheri-Cheteri, M Sabripour, C Wei, T J McGarrity, M F Seldin, L Nations, P M Lynch, H H Fidder, E Friedman, M L Frazier

Journal of Medical Genetics May 2004, 41 (5) 327-333; DOI: 10.1136/jmg.2003.010900
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
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1
H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes

Journal of Medical Genetics Apr 2004, 41 (4) e49; DOI: 10.1136/jmg.2003.013318
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders
M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin

Journal of Medical Genetics Apr 2004, 41 (4) e42; DOI: 10.1136/jmg.2003.012393

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