Literature DB >> 2613244

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

P McWilliam1, G J Farrar, P Kenna, D G Bradley, M M Humphries, E M Sharp, D J McConnell, M Lawler, D Sheils, C Ryan.   

Abstract

Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

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Year:  1989        PMID： 2613244     DOI： 10.1016/0888-7543(89)90031-1

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


  44 in total

1.  Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

Authors:  G J Farrar; P Kenna; R Redmond; P McWilliam; D G Bradley; M M Humphries; E M Sharp; C F Inglehearn; R Bashir; M Jay
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  EnsMart: a generic system for fast and flexible access to biological data.

Authors:  Arek Kasprzyk; Damian Keefe; Damian Smedley; Darin London; William Spooner; Craig Melsopp; Martin Hammond; Philippe Rocca-Serra; Tony Cox; Ewan Birney
Journal:  Genome Res       Date:  2004-01       Impact factor: 9.043

3.  Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.

Authors:  C Bell; C A Converse; M F Collins; L Esakowitz; K F Kelly; N E Haites
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

4.  Clinical and genetic heterogeneity in retinitis pigmentosa.

Authors:  J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 5.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

Review 6.  Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Authors:  Keiko Miyadera; Gregory M Acland; Gustavo D Aguirre
Journal:  Mamm Genome       Date:  2011-11-08       Impact factor: 2.957

7.  Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy.

Authors:  Naomi Chadderton; Sophia Millington-Ward; Arpad Palfi; Mary O'Reilly; Gearóid Tuohy; Marian M Humphries; Tiansen Li; Peter Humphries; Paul F Kenna; G Jane Farrar
Journal:  Mol Ther       Date:  2009-01-27       Impact factor: 11.454

8.  Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

Authors:  D H Lester; C F Inglehearn; R Bashir; H Ackford; L Esakowitz; M Jay; A C Bird; A F Wright; S S Papiha; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

9.  No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families.

Authors:  J B Jiménez; C Samanns; A Watty; J Pongratz; J E Olsson; P Dickinson; R Buttery; A Gal; M J Denton
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

10.  Molecular advances in retinitis pigmentosa.

Authors:  R G Weleber; W H Murphey
Journal:  West J Med       Date:  1991-10
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