Journal of Medical Genetics

STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker
A Ivanova, S-Y Liao, M I Lerman, S Ivanov, E J Stanbridge

Journal of Medical Genetics Jul 2005, 42 (7) 565-576; DOI: 10.1136/jmg.2004.029835
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
S G Cole, M E Begbie, G M F Wallace, C L Shovlin

Journal of Medical Genetics Jul 2005, 42 (7) 577-582; DOI: 10.1136/jmg.2004.028712
Melanocortin-1 receptor gene variants affect pain and μ-opioid analgesia in mice and humans
J S Mogil, J Ritchie, S B Smith, K Strasburg, L Kaplan, M R Wallace, R R Romberg, H Bijl, E Y Sarton, R B Fillingim, A Dahan

Journal of Medical Genetics Jul 2005, 42 (7) 583-587; DOI: 10.1136/jmg.2004.027698
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
J Lin, K M Nishiguchi, M Nakamura, T P Dryja, E L Berson, Y Miyake

Journal of Medical Genetics Jun 2005, 42 (6) e38; DOI: 10.1136/jmg.2004.029066
Evidence of an association between genetic variation of the coactivator PGC-1β and obesity
G Andersen, L Wegner, K Yanagisawa, C S Rose, J Lin, C Glümer, T Drivsholm, K Borch-Johnsen, T Jørgensen, T Hansen, B M Spiegelman, O Pedersen

Journal of Medical Genetics May 2005, 42 (5) 402-407; DOI: 10.1136/jmg.2004.026278
Identification of discrete chromosomal deletion by binary recursive partitioning of microarray differential expression data
X Zhou, S W Cole, N P Rao, Z Cheng, Y Li, J McBride, D T W Wong

Journal of Medical Genetics May 2005, 42 (5) 416-419; DOI: 10.1136/jmg.2004.025353
Reappraisal of the historical selective pressures for the CCR5-Δ32 mutation
S R Duncan, S Scott, C J Duncan

Journal of Medical Genetics Mar 2005, 42 (3) 205-208; DOI: 10.1136/jmg.2004.025346
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri

Journal of Medical Genetics Feb 2005, 42 (2) 103-107; DOI: 10.1136/jmg.2004.026237
A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions
K J Griffin, L S Kirschner, L Matyakhina, S G Stergiopoulos, A Robinson-White, S M Lenherr, F D Weinberg, E S Claflin, D Batista, I Bourdeau, A Voutetakis, F Sandrini, E M Meoli, A J Bauer, Y S Cho-Chung, S R Bornstein, J A Carney, C A Stratakis

Journal of Medical Genetics Dec 2004, 41 (12) 923-931; DOI: 10.1136/jmg.2004.028043
Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
K Yamamoto, E Ishii, M Sako, S Ohga, K Furuno, N Suzuki, I Ueda, M Imayoshi, S Yamamoto, A Morimoto, H Takada, T Hara, S Imashuku, T Sasazuki, M Yasukawa

Journal of Medical Genetics Oct 2004, 41 (10) 763-767; DOI: 10.1136/jmg.2004.021121

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