Journal of Medical Genetics: 41 (8)

Electronic letters

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease (30 July, 2004) Free
S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance (30 July, 2004) Free
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale
Clinical features of type 2 Stickler syndrome (30 July, 2004) Free
A V Poulson, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, M P Snead
Expression analysis of an FGFR2 IIIc 5′ splice site mutation (1084+3A→G)
(30 July, 2004) Free
R Kan, S R F Twigg, J Berg, L Wang, F Jin, A O M Wilkie
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
(30 July, 2004) Free
V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, S S Bhattacharya

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome (30 July, 2004) Free
M Witsch-Baumgartner, M Gruber, H G Kraft, M Rossi, P Clayton, M Giros, D Haas, R I Kelley, M Krajewska-Walasek, G Utermann
Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China
(30 July, 2004) Free
T-W Guo, F-C Zhang, M-S Yang, X-C Gao, L Bian, S-W Duan, Z-J Zheng, J-J Gao, H Wang, R-L Li, G-Y Feng, D St Clair, L He

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
(30 July, 2004) Free
S Naz, A J Griffith, S Riazuddin, L L Hampton, J F Battey , S N Khan, S Riazuddin, E R Wilcox, T B Friedman
A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus
(30 July, 2004) Free
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

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues
(30 July, 2004) Free
K Nakabayashi, S Makino, S Minagawa, A C Smith, J S Bamforth, P Stanier, M Preece, L Parker-Katiraee, T Paton, M Oshimura, P Mill, Y Yoshikawa, C C Hui, D Monk, G E Moore, S W Scherer
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome (30 July, 2004) Free
M Plasilova, C Chattopadhyay, P Pal, N A Schaub, S A Buechner, Hj Mueller, P Miny, A Ghosh, K Heinimann
Molecular analysis of the mitochondrial 12S rRNA and tRNA^Ser(UCN) genes in paediatric subjects with non-syndromic hearing loss
(30 July, 2004) Free
R Li, J H Greinwald, L Yang, D I Choo, R J Wenstrup, M-X Guan
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
(30 July, 2004) Free
M T Bassi, N Bresolin, A Tonelli, K Nazos, F Crippa, C Baschirotto, C Zucca, A Bersano, D Dolcetta, F M Boneschi, V Barone, G Casari
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype (30 July, 2004) Free
J Yarden, D Radojkovic, K De Boeck, M Macek, D Zemkova, V Vavrova, R Vlietinck, J-J Cassiman, H Cuppens
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1 (30 July, 2004) Free
P N Valdmanis, A A Simões Lopes, F Gros-Louis, J D Stewart, G A Rouleau, N Dupré