Eye Diseases

Citations 11-20 of 224 total displayed.

Mutation report
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy

N Fuhrmann, M V Alavi, P Bitoun, S Woernle, G Auburger, B Leo-Kottler, P Yu-Wai-Man, P Chinnery, B Wissinger
J. Med. Genet. 2009; 46: 136-144. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

E López-Gallardo, A Solano, M D Herrero-Martín, Í Martínez-Romero, M D Castaño-Pérez, A L Andreu, A Herrera, M J López-Pérez, E Ruiz-Pesini, J Montoya
J. Med. Genet. 2009; 46: 64-67. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

V Laugel, C Dalloz, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, V Valayannopoulos, A Sarasin, H Dollfus
J. Med. Genet. 2008 45: 564 -571; published online before print as 10.1136/jmg.2007.057141 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study

Z-B Jin, M Mandai, T Yokota, K Higuchi, K Ohmori, F Ohtsuki, S Takakura, T Itabashi, Y Wada, M Akimoto, S Ooto, T Suzuki, Y Hirami, H Ikeda, N Kawagoe, A Oishi, S Ichiyama, M Takahashi, N Yoshimura, S Kosugi
J. Med. Genet. 2008 45: 465 -472; published online before print as 10.1136/jmg.2007.056416 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Short report
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts

A Arora, P J Minogue, X Liu, P K Addison, I Russel-Eggitt, A R Webster, D M Hunt, L Ebihara, E C Beyer, V M Berthoud, A T Moore
J. Med. Genet. 2008 45: 155 -160; published online before print as 10.1136/jmg.2007.051029 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

Veronica van Heyningen, Jan M N Hoovers, Jan de Kraker, John A Crolla
J. Med. Genet. 2007 44: 787 -790; published online before print as 10.1136/jmg.2007.051318 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O’Toole, John A Sayer, Friedhelm Hildebrandt
J. Med. Genet. 2007 44: 657 -663; published online before print as 10.1136/jmg.2007.052027 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran
J. Med. Genet. 2007; 44: e85. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation

Sanjay M Sisodiya, Pamela J Thompson, Anna Need, Sarah E Harris, Michael E Weale, Susan E Wilkie, Michel Michaelides, Samantha L Free, Nicole Walley, Curtis Gumbs, Dianne Gerrelli, Piers Ruddle, Lawrence J Whalley, John M Starr, David M Hunt, David B Goldstein, Ian J Deary, Anthony T Moore
J. Med. Genet. 2007 44: 373 -380; published online before print as 10.1136/jmg.2006.047407 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings

Donatella Colaizzo, Lucio Amitrano, Luigi Iannaccone, Patrizia Vergura, Filomena Cappucci, Elvira Grandone, Maria Anna Guardascione, Maurizio Margaglione
J. Med. Genet. 2007 44: 412 -416; published online before print as 10.1136/jmg.2006.048371 [Abstract] [Full text] [PDF] [Request Permissions]