Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

Autor: Cf, Inglehearn, Dh, Lester, Bashir R, Atif U, Tj, Keen, Sertedaki A, Janet Lindsey, Jay M, Ac, Bird, Gj, Farrar

Publikováno v: Europe PubMed Central

Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1403f5d5e2d6eb78ef3e90afd0a6d64c
https://pubmed.ncbi.nlm.nih.gov/1539595

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Autor: Bedoni N, Haer-Wigman L, Vaclavik V, Vh, Tran, Farinelli P, Balzano S, Royer-Bertrand B, Me, El-Asrag, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Gg, Yioti, Mi, Stefaniotou, McKibbin M, Ap, Booth, Jamie Ellingford, Gc, Black, Toomes C, Cf, Inglehearn

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::02d499890a2a9a598fd316145434d756
http://europepmc.org/abstract/med/28173158

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Autor: Ali M, Buentello-Volante B, McKibbin M, Ja, Rocha-Medina, Narcis Fernandez-Fuentes, Koga-Nakamura W, Ashiq A, Khan K, Ap, Booth, Williams G, Raashid Y, Jafri H, Rice A, Cf, Inglehearn, Jc, Zenteno

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09f93413e9e03c8606a613584f3ef9d4
http://www.scopus.com/inward/record.url?eid=2-s2.0-77955643791&partnerID=MN8TOARS

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

Autor: Al-Araimi M, Pal B, James Poulter, Mm, Genderen, Carr I, Cudrnak T, Brown L, Sheridan E, Md, Mohamed, Bradbury J, Ali M, Cf, Inglehearn, Toomes C

Publikováno v: Europe PubMed Central

PURPOSE: We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::48e303221dfd31242e05de009a1e5b02
http://europepmc.org/abstract/med/24194637

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Autor: Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., IntHout J; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands., Runhart EH; Rotterdam Ophthalmic Institute, The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Grunewald O; Lille Neuroscience & Cognition, University of Lille, Inserm, CHU Lille, Lille, France., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Whelan L; Smurfit Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland., Farrar GJ; Smurfit Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., van den Born LI; Rotterdam Ophthalmic Institute, The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Simcoe M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Michaelides M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Mahroo OA; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Dhaenens CM; Lille Neuroscience & Cognition, University of Lille, Inserm, CHU Lille, Lille, France., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2024 May 01; Vol. 142 (5), pp. 463-471.