Eye Diseases

Citations 1-10 of 224 total displayed.

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, M G Hanna
J. Med. Genet. 2009 46: 786 -791; published online before print as 10.1136/jmg.2009.067967 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, F Hildebrandt
J. Med. Genet. 2009 46: 663 -670; published online before print as 10.1136/jmg.2009.066613 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss

P J Francis, S C Hamon, J Ott, R G Weleber, M L Klein
J. Med. Genet. 2009 46: 300 -307; published online before print as 10.1136/jmg.2008.062737 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Short report
Germline mutation in DOK7 associated with fetal akinesia deformation sequence

J Vogt, N V Morgan, T Marton, S Maxwell, B J Harrison, D Beeson, E R Maher
J. Med. Genet. 2009 46: 338 -340; published online before print as 10.1136/jmg.2008.065425 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
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
J. Med. Genet. 2009; 46: 272-276. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
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
J. Med. Genet. 2009; 46: 281-286. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Review
Inherited mitochondrial optic neuropathies

P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery
J. Med. Genet. 2009 46: 145 -158; published online before print as 10.1136/jmg.2007.054270 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor
J. Med. Genet. 2009; 46: 209-214. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

S Farasat, M-H Wei, M Herman, D J Liewehr, S M Steinberg, S J Bale, P Fleckman, J R Toro
J. Med. Genet. 2009 46: 103 -111; published online before print as 10.1136/jmg.2008.060905 [Abstract] [Full text] [PDF] [Request Permissions]