Hereditary eye disease

Citations 11-20 of 73 total displayed.

Online mutation reports
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, J M Millán
J. Med. Genet. 2006; 43: e55. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

A-F Roux, V Faugère, S Le Guédard, N Pallares-Ruiz, A Vielle, S Chambert, S Marlin, C Hamel, B Gilbert, S Malcolm, M Claustres for the French Usher Syndrome Collaboration
J. Med. Genet. 2006 43: 763 -768; published online before print as 10.1136/jmg.2006.041954 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E-M Sankila, T Alitalo, N T Bech-Hansen
J. Med. Genet. 2006 43: 699 -704; published online before print as 10.1136/jmg.2006.040741 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

A Melamud, G-Q Shen, D Chung, Q Xi, E Simpson, L Li, N S Peachey, H Zegarra, S A Hagstrom, Q K Wang, E I Traboulsi
J. Med. Genet. 2006; 43: e27. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

W Seifert, M Holder-Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn
J. Med. Genet. 2006; 43: e22. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, L Tranebjærg
J. Med. Genet. 2006; 43: 435-440. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem
J. Med. Genet. 2006 43: 326 -333; published online before print as 10.1136/jmg.2005.034868 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases

A Abid, M Ismail, S Q Mehdi, S Khaliq
J. Med. Genet. 2006 43: 378 -381; published online before print as 10.1136/jmg.2005.035055 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

J Steffann, N Frydman, N Gigarel, P Burlet, P F Ray, R Fanchin, E Feyereisen, V Kerbrat, G Tachdjian, J-P Bonnefont, R Frydman, A Munnich
J. Med. Genet. 2006 43: 244 -247; published online before print as 10.1136/jmg.2005.032326 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

J C Booij, R J Florijn, J B ten Brink, W Loves, F Meire, M J van Schooneveld, P TVM de Jong, A A B Bergen
J. Med. Genet. 2005; 42: e67. [Abstract] [Full text] [PDF] [Request Permissions]