Literature DB >> 9733043

A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.

C F Inglehearn, E E Tarttelin, T J Keen, S S Bhattacharya, A T Moore, R Taylor, A C Bird.   

Abstract

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Year:  1998        PMID： 9733043      PMCID： PMC1051440          DOI： 10.1136/jmg.35.9.788

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

Authors:  S Y Xu; M Schwartz; T Rosenberg; A Gal
Journal:  Hum Mol Genet       Date:  1996-08       Impact factor: 6.150

2.  Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q.

Authors:  S Y Xu; T Rosenberg; A Gal
Journal:  Hum Genet       Date:  1998-04       Impact factor: 4.132

3.  A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa.

Authors:  A L Lyness; W Ernst; M P Quinlan; G M Clover; G B Arden; R M Carter; A C Bird; J A Parker
Journal:  Br J Ophthalmol       Date:  1985-05       Impact factor: 4.638

4.  A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Authors:  C F Inglehearn; E E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; E Vithana; A C Bird; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

Review 5.  Molecular genetics of human retinal dystrophies.

Authors:  C F Inglehearn
Journal:  Eye (Lond)       Date:  1998       Impact factor: 3.775

6.  Population genetic studies of retinitis pigmentosa.

Authors:  J A Boughman; P M Conneally; W E Nance
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025
  6 in total
  1 in total

1.  Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.

Authors:  Veronika Vaclavik; Marie-Claire Gaillard; L Tiab; Daniel F Schorderet; Francis L Munier
Journal:  Mol Vis       Date:  2010-03-19       Impact factor: 2.367
  1 in total

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