Literature DB >> 1302614

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

G J Farrar1, J B Findlay, R Kumar-Singh, P Kenna, M M Humphries, E Sharpe, P Humphries.   

Abstract

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Year:  1992        PMID： 1302614     DOI： 10.1093/hmg/1.9.769

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

Review 1.  Structure and activation of rhodopsin.

Authors:  X Edward Zhou; Karsten Melcher; H Eric Xu
Journal:  Acta Pharmacol Sin       Date:  2012-01-23       Impact factor: 6.150

2.  Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q.

Authors:  C Inglehearn; J Farrar; M Denton; A Gal; P Humphries; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

Review 3.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

4.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

Review 5.  Finding and interpreting genetic variations that are important to ophthalmologists.

Authors:  Edwin M Stone
Journal:  Trans Am Ophthalmol Soc       Date:  2003

6.  Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.

Authors:  Cécilia Maubaret; Maria Kosmaoglou; Sancy Low; Christina F Chakarova; Samuel Bidot; Christel Thauvin-Robinet; Anthony G Robson; Naushin Waseem; Michael E Cheetham; Shomi S Bhattacharya
Journal:  Mol Vis       Date:  2012-03-02       Impact factor: 2.367

7.  Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Authors:  Adrian Dockery; Kirk Stephenson; David Keegan; Niamh Wynne; Giuliana Silvestri; Peter Humphries; Paul F Kenna; Matthew Carrigan; G Jane Farrar
Journal:  Genes (Basel)       Date:  2017-11-03       Impact factor: 4.096

Review 8.  The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.

Authors:  Izarbe Aísa-Marín; Rocío García-Arroyo; Serena Mirra; Gemma Marfany
Journal:  Int J Mol Sci       Date:  2021-02-12       Impact factor: 5.923
  8 in total

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