Genetic screening / counselling

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
H Rosewich, A Ohlenbusch, J Gärtner

Journal of Medical Genetics Sep 2005, 42 (9) e58; DOI: 10.1136/jmg.2005.033324
Is the Ala12 variant of the PPARG gene an “unthrifty allele”?
E Ruiz-Narváez

Journal of Medical Genetics Jul 2005, 42 (7) 547-550; DOI: 10.1136/jmg.2004.026765
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
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 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
A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus
I Bossis, A Voutetakis, L Matyakhina, S Pack, M Abu-Asab, I Bourdeau, K J Griffin, N Courcoutsakis, S Stergiopoulos, D Batista, M Tsokos, C A Stratakis

Journal of Medical Genetics Aug 2004, 41 (8) 596-600; DOI: 10.1136/jmg.2004.020214
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia
M Ridanpää, L M Ward, S Rockas, M Särkioja, H Mäkelä, M Susic, F H Glorieux, W G Cole, O Mäkitie

Journal of Medical Genetics Oct 2003, 40 (10) 741-746; DOI: 10.1136/jmg.40.10.741
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
H L Wilson, A C C Wong, S R Shaw, W-Y Tse, G A Stapleton, M C Phelan, S Hu, J Marshall, H E McDermid

Journal of Medical Genetics Aug 2003, 40 (8) 575-584; DOI: 10.1136/jmg.40.8.575
A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
A Cenarro, M Artieda, S Castillo, P Mozas, G Reyes, D Tejedor, R Alonso, P Mata, M Pocoví, F Civeira

Journal of Medical Genetics Mar 2003, 40 (3) 163-168; DOI: 10.1136/jmg.40.3.163

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