Eye Diseases

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts
E Nandrot, C Slingsby, A Basak, M Cherif-Chefchaouni, B Benazzouz, Y Hajaji, S Boutayeb, O Gribouval, L Arbogast, A Berraho, M Abitbol, L Hilal

Journal of Medical Genetics Apr 2003, 40 (4) 262-267; DOI: 10.1136/jmg.40.4.262
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Johannes Koch, René G Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A Mayr, Holger Prokisch, Tobias B Haack

Journal of Medical Genetics Apr 2016, 53 (4) 270-278; DOI: 10.1136/jmedgenet-2015-103500
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
N Hilgert, K Kahrizi, N Dieltjens, N Bazazzadegan, H Najmabadi, R J H Smith, G Van Camp

Journal of Medical Genetics Apr 2009, 46 (4) 272-276; DOI: 10.1136/jmg.2008.060947
Homozygosity mapping of a third Joubert syndrome locus to 6q23
C Lagier-Tourenne, E Boltshauser, N Breivik, M Gribaa, C Bétard, C Barbot, M Koenig

Journal of Medical Genetics Apr 2004, 41 (4) 273-277; DOI: 10.1136/jmg.2003.014787
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
M Failly, L Bartoloni, A Letourneau, A Munoz, E Falconnet, C Rossier, M M de Santi, F Santamaria, O Sacco, C D DeLozier-Blanchet, R Lazor, J-L Blouin

Journal of Medical Genetics Apr 2009, 46 (4) 281-286; DOI: 10.1136/jmg.2008.061176
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome
M Hmani-Aifa, S Ben Arab, K Kharrat, D J Orten, A Boulila-Elgaied, M Drira, S Hachicha, W J Kimberling, H Ayadi

Journal of Medical Genetics Apr 2002, 39 (4) 281-283; DOI: 10.1136/jmg.39.4.281
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
J-M Rozet, I Perrault, N Gigarel, E Souied, I Ghazi, S Gerber, J-L Dufier, A Munnich, J Kaplan

Journal of Medical Genetics Apr 2002, 39 (4) 284-285; DOI: 10.1136/jmg.39.4.284
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák

Journal of Medical Genetics Apr 1999, 36 (4) 290-294; DOI: 10.1136/jmg.36.4.290
Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype
M Giacchetti, A Monticelli, I De Biase, L Pianese, M Turano, A Filla, G De Michele, S Cocozza

Journal of Medical Genetics Apr 2004, 41 (4) 293-295; DOI: 10.1136/jmg.2003.015289
Primary open angle glaucoma is associated with a specific p53 gene haplotype
T Ressiniotis, P G Griffiths, M Birch, S Keers, P F Chinnery

Journal of Medical Genetics Apr 2004, 41 (4) 296-298; DOI: 10.1136/jmg.2003.016089

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