Literature DB >> 9443872

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

A M Payne, S M Downes, D A Bessant, A C Bird, S S Bhattacharya.   

Abstract

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Year:  1998        PMID： 9443872      PMCID： PMC1376804          DOI： 10.1086/301679

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 in total

Review 1.  Genetic factors of age-related macular degeneration.

Authors:  Jingsheng Tuo; Christine M Bojanowski; Chi-Chao Chan
Journal:  Prog Retin Eye Res       Date:  2004-03       Impact factor: 21.198

2.  Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Authors:  Jacque L Duncan; Katherine E Talcott; Kavitha Ratnam; Sanna M Sundquist; Anya S Lucero; Shelley Day; Yuhua Zhang; Austin Roorda
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-01       Impact factor: 4.799

Review 3.  Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.

Authors:  Xi-Qin Ding; Muna I Naash
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

4.  Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Authors:  B P Leroy; A Kailasanathan; J-J De Laey; G C M Black; F D C Manson
Journal:  Br J Ophthalmol       Date:  2006-08-17       Impact factor: 4.638

5.  PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Authors:  Manon H C A Peeters; Mubeen Khan; Anoek A M B Rooijakkers; Timo Mulders; Lonneke Haer-Wigman; Camiel J F Boon; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; Claire-Marie Dhaenens; Rob W J Collin
Journal:  Hum Mutat       Date:  2021-09-20       Impact factor: 4.700

6.  Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

Authors:  Shahrokh C Khani; Athanasios J Karoukis; Joyce E Young; Rajesh Ambasudhan; Tracy Burch; Richard Stockton; Richard Alan Lewis; Lori S Sullivan; Stephen P Daiger; Elias Reichel; Radha Ayyagari
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-08       Impact factor: 4.799

7.  High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Authors:  María José Gamundi; Imma Hernan; Marta Muntanyola; María José Trujillo; Blanca García-Sandoval; Carmen Ayuso; Montserrat Baiget; Miguel Carballo
Journal:  Mol Vis       Date:  2007-06-28       Impact factor: 2.367

8.  Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Authors:  Xia Wang; Hui Wang; Vincent Sun; Han-Fang Tuan; Vafa Keser; Keqing Wang; Huanan Ren; Irma Lopez; Jacques E Zaneveld; Sorath Siddiqui; Stephanie Bowles; Ayesha Khan; Jason Salvo; Samuel G Jacobson; Alessandro Iannaccone; Feng Wang; David Birch; John R Heckenlively; Gerald A Fishman; Elias I Traboulsi; Yumei Li; Dianna Wheaton; Robert K Koenekoop; Rui Chen
Journal:  J Med Genet       Date:  2013-07-11       Impact factor: 6.318

9.  Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.

Authors:  Shannon Conley; May Nour; Steven J Fliesler; Muna I Naash
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-12       Impact factor: 4.799

10.  Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Authors:  Suma P Shankar; Dianna K Hughbanks-Wheaton; David G Birch; Lori S Sullivan; Karen N Conneely; Sara J Bowne; Edwin M Stone; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-02       Impact factor: 4.799
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