Literature DB >> 8025039

Hereditary retinopathies: insights into a complex genetic aetiology.

P Humphries.   

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Year:  1993        PMID： 8025039      PMCID： PMC504576          DOI： 10.1136/bjo.77.8.469

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  17 in total

1.  A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

Authors:  G J Farrar; P Kenna; S A Jordan; R Kumar-Singh; M M Humphries; E M Sharp; D M Sheils; P Humphries
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

2.  Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

Authors:  C H Sung; B G Schneider; N Agarwal; D S Papermaster; J Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

3.  Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Authors:  K Kajiwara; L B Hahn; S Mukai; G H Travis; E L Berson; T P Dryja
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

4.  Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Authors:  G J Farrar; P McWilliam; D G Bradley; P Kenna; M Lawler; E M Sharp; M M Humphries; H Eiberg; P M Conneally; J A Trofatter
Journal:  Genomics       Date:  1990-09       Impact factor: 5.736

5.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Authors:  K Kajiwara; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

6.  Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Authors:  B E Nichols; V C Sheffield; K Vandenburgh; A V Drack; A E Kimura; E M Stone
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

7.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

8.  Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

Authors:  G J Farrar; S A Jordan; P Kenna; M M Humphries; R Kumar-Singh; P McWilliam; V Allamand; E Sharp; P Humphries
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

9.  Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Authors:  S H Blanton; J R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; S P Daiger
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

10.  Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase.

Authors:  C Bowes; T Li; M Danciger; L C Baxter; M L Applebury; D B Farber
Journal:  Nature       Date:  1990-10-18       Impact factor: 49.962
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