Literature DB >> 14557183

Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

Satsuki Yanagihashi1, Mitsuru Nakazawa, Junji Kurotaki, Motoya Sato, Yasuhiro Miyagawa, Hiroshi Ohguro.   

Abstract

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Year:  2003        PMID： 14557183     DOI： 10.1001/archopht.121.10.1458

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  11 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.  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

3.  Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Authors:  Akio Oishi; Kaoru Fujinami; Go Mawatari; Nobuhisa Naoi; Yasuhiro Ikeda; Shinji Ueno; Kazuki Kuniyoshi; Takaaki Hayashi; Hiroyuki Kondo; Atsushi Mizota; Kei Shinoda; Sentaro Kusuhara; Makoto Nakamura; Takeshi Iwata; Akitaka Tsujikawa; Kazushige Tsunoda
Journal:  Genes (Basel)       Date:  2021-11-18       Impact factor: 4.096

4.  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

5.  Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.

Authors:  Motoya Sato; Mitsuru Nakazawa; Tomoaki Usui; Naoyuki Tanimoto; Haruki Abe; Hiroshi Ohguro
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-09-28       Impact factor: 3.117

6.  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

7.  Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA.

Authors:  Henar Albertos-Arranz; Xavier Sánchez-Sáez; Natalia Martínez-Gil; Isabel Pinilla; Rosa M Coco-Martin; Jesús Delgado; Nicolás Cuenca
Journal:  Diagnostics (Basel)       Date:  2021-04-26

8.  The special electrophysiological signs of inherited retinal dystrophies.

Authors:  Elena Prokofyeva; Eric Troeger; Eberhart Zrenner
Journal:  Open Ophthalmol J       Date:  2012-10-31

9.  PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Authors:  Rosa M Coco-Martin; Hortensia T Sanchez-Tocino; Carmen Desco; Ricardo Usategui-Martín; Juan J Tellería
Journal:  Genes (Basel)       Date:  2020-07-09       Impact factor: 4.096

10.  In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

Authors:  Elvir Becirovic; Sybille Böhm; Ong Nam Phuong Nguyen; Lisa Maria Riedmayr; Mirja Annika Koch; Elisabeth Schulze; Susanne Kohl; Oliver Borsch; Tiago Santos-Ferreira; Marius Ader; Stylianos Michalakis; Martin Biel
Journal:  PLoS Genet       Date:  2016-01-21       Impact factor: 5.917
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