Literature DB >> 1783387

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin.

G J Farrar1, P Kenna, R Redmond, D Shiels, P McWilliam, M M Humphries, E M Sharp, S Jordan, R Kumar-Singh, P Humphries.   

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Year:  1991        PMID： 1783387

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  13 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

Review 2.  Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.

Authors:  Vijender Chaitankar; Gökhan Karakülah; Rinki Ratnapriya; Felipe O Giuste; Matthew J Brooks; Anand Swaroop
Journal:  Prog Retin Eye Res       Date:  2016-06-11       Impact factor: 21.198

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

Review 4.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

5.  Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

Authors:  S A Jordan; G J Farrar; R Kumar-Singh; P Kenna; M M Humphries; V Allamand; E M Sharp; P Humphries
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

6.  Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Authors:  J P Macke; C M Davenport; S G Jacobson; J C Hennessey; F Gonzalez-Fernandez; B P Conway; J Heckenlively; R Palmer; I H Maumenee; P Sieving
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.

Authors:  C Bell; C A Converse; H M Hammer; A Osborne; N E Haites
Journal:  Br J Ophthalmol       Date:  1994-12       Impact factor: 4.638

8.  Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Authors:  James S Friedman; Joseph W Ray; Naushin Waseem; Kory Johnson; Matthew J Brooks; Therése Hugosson; Debra Breuer; Kari E Branham; Daniel S Krauth; Sara J Bowne; Lori S Sullivan; Vesna Ponjavic; Lotta Gränse; Ritu Khanna; Edward H Trager; Linn M Gieser; Dianna Hughbanks-Wheaton; Radu I Cojocaru; Noor M Ghiasvand; Christina F Chakarova; Magnus Abrahamson; Harald H H Göring; Andrew R Webster; David G Birch; Goncalo R Abecasis; Yang Fann; Shomi S Bhattacharya; Stephen P Daiger; John R Heckenlively; Sten Andréasson; Anand Swaroop
Journal:  Am J Hum Genet       Date:  2009-06       Impact factor: 11.025

Review 9.  Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward.

Authors:  Jean Bennett
Journal:  Mol Ther       Date:  2017-04-05       Impact factor: 12.910

10.  Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.

Authors:  Guoxing Yang; Shipeng Xie; Na Feng; Zhifeng Yuan; Minglian Zhang; Jialiang Zhao
Journal:  Mol Vis       Date:  2014-07-31       Impact factor: 2.367
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