Journal of Medical Genetics: 41 (9)

Electronic letters

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract (1 September, 2004) Free
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthièry, G Lenaers, D Bonneau
Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes (1 September, 2004) Free
Y Yan, M Wang, W J Lemon, M You
Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn’s disease (1 September, 2004) Free
S L F Pender, P J P Croucher, S Mascheretti, J D Prothero, S A Fisher, T T MacDonald, S Schreiber, Shu Ye

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma (1 September, 2004) Free
R Melki, E Colomb, N Lefort, A P Brézin, H-J Garchon
Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family (1 September, 2004) Free
C G F de Kovel, F A Hol, J G A M Heister, J J H T Willemen, L A Sandkuijl, B Franke, G W Padberg
Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults (1 September, 2004) Free
S Weidinger, N Klopp, S Wagenpfeil, L Rümmler, M Schedel, M Kabesch, T Schäfer, U Darsow, T Jakob, H Behrendt, H E Wichmann, J Ring, T Illig
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing (1 September, 2004) Free
E Domingo, P Laiho, M Ollikainen, M Pinto, L Wang, A J French, J Westra, T Frebourg, E Espín, M Armengol, R Hamelin, H Yamamoto, R M W Hofstra, R Seruca, A Lindblom, P Peltomäki, S N Thibodeau, L A Aaltonen, S Schwartz
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 (1 September, 2004) Free
N M Solomon, S A Ross, T Morgan, J L Belsky, F A Hol, P S Karnes, N J Hopwood, S E Myers, A S Tan, G L Warne, S M Forrest, P Q Thomas

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map (1 September, 2004) Free
G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, P Marynen, G Matthijs, T de Ravel, K Devriendt, J P Fryns, J R Vermeesch
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2 (1 September, 2004) Free
A I den Hollander, J J C van Lith-Verhoeven, F F J Kersten, J G A M Heister, C G F de Kovel, A F Deutman, C B Hoyng, F P M Cremers
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma (1 September, 2004) Free
B E Baysal, J E Willett-Brozick, P A A Filho, E C Lawrence, E N Myers, R E Ferrell
Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures (1 September, 2004) Free
L Claes, D Audenaert, L Deprez, W Van Paesschen, C Depondt, D Goossens, J Del-Favero, C Van Broeckhoven, P De Jonghe
Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome (1 September, 2004) Free
C J Reddel, A S Weiss

Robin M Winter (1 September, 2004) Free
Walter E Nance
Robin M Winter—a colleagues’ perspective (1 September, 2004) Free
E M Rosser, L M Wilson