Clinical genetics

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
HG Kim, S R Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella

Journal of Medical Genetics Aug 2005, 42 (8) 666-672; DOI: 10.1136/jmg.2004.026989
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
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
J C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson

Journal of Medical Genetics May 2005, 42 (5) e30; DOI: 10.1136/jmg.2004.027300
Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
E Cadet, D Capron, M Gallet, M-L Omanga-Léké, H Boutignon, C Julier, K J H Robson, J Rochette

Journal of Medical Genetics May 2005, 42 (5) 390-395; DOI: 10.1136/jmg.2004.027284
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
T Tukel, A Uzumcu, A Gezer, H Kayserili, M Yuksel-Apak, O Uyguner, S H Gultekin, H-C Hennies, P Nurnberg, R J Desnick, B Wollnik

Journal of Medical Genetics May 2005, 42 (5) 408-415; DOI: 10.1136/jmg.2004.026138
Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy
J Vijai, A Kapoor, H M Ravishankar, P J Cherian, G Kuruttukulam, B Rajendran, R Sridharan, G Rangan, A S Girija, S Jayalakshmi, S Mohandas, K S Mani, K Radhakrishnan, A Anand

Journal of Medical Genetics May 2005, 42 (5) 439-442; DOI: 10.1136/jmg.2004.023812
Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at −1249
R M Fernandez, G Boru, A Peciña, K Jones, M López-Alonso, G Antiñolo, S Borrego, C Eng

Journal of Medical Genetics Apr 2005, 42 (4) 322-327; DOI: 10.1136/jmg.2004.023960
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, N Lévy

Journal of Medical Genetics Mar 2005, 42 (3) 260-265; DOI: 10.1136/jmg.2004.024364
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha₁-antitrypsin deficiency
I Ferrarotti, J Baccheschi, M Zorzetto, C Tinelli, L Corda, B Balbi, I Campo, E Pozzi, G Faa, P Coni, G Massi, G Stella, M Luisetti

Journal of Medical Genetics Mar 2005, 42 (3) 282-287; DOI: 10.1136/jmg.2004.023903
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen

Journal of Medical Genetics Feb 2005, 42 (2) e12; DOI: 10.1136/jmg.2004.023804

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