Literature DB >> 8994365

Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.

S G Jacobson, A V Cideciyan, A M Maguire, J Bennett, V C Sheffield, E M Stone.   

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Year:  1996        PMID： 8994365     DOI： 10.1006/exer.1996.0152

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  7 in total

Review 1.  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

Review 2.  Diagnosis and classification of macular degenerations: an approach based on retinal function testing.

Authors:  L Scullica; B Falsini
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

Review 3.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

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 peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Authors:  Camiel J F Boon; Mary J van Schooneveld; Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Marijke N Zonneveld-Vrieling; Thomas Theelen; Frans P M Cremers; Carel B Hoyng; B Jeroen Klevering
Journal:  Br J Ophthalmol       Date:  2007-05-15       Impact factor: 4.638

6.  Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.

Authors:  A V Cideciyan; X Zhao; L Nielsen; S C Khani; S G Jacobson; K Palczewski
Journal:  Proc Natl Acad Sci U S A       Date:  1998-01-06       Impact factor: 11.205

7.  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
  7 in total

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