Literature DB >> 7573060

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.

R Goliath, Y Shugart, P Janssens, J Weissenbach, P Beighton, R Ramasar, J Greenberg.   

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Year:  1995        PMID： 7573060      PMCID： PMC1801525     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

1.  Isolation of human retinal genes: recoverin cDNA and gene.

Authors:  A Murakami; T Yajima; G Inana
Journal:  Biochem Biophys Res Commun       Date:  1992-08-31       Impact factor: 3.575

2.  Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.

Authors:  J Greenberg; M Babaya; R Ramesar; P Beighton
Journal:  Clin Genet       Date:  1992-06       Impact factor: 4.438

3.  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

4.  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

5.  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

6.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

7.  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

8.  A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Authors:  C F Inglehearn; T J Keen; R Bashir; M Jay; F Fitzke; A C Bird; A Crombie; S Bhattacharya
Journal:  Hum Mol Genet       Date:  1992-04       Impact factor: 6.150

9.  A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Authors:  J Greenberg; R Goliath; P Beighton; R Ramesar
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

10.  Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Authors:  T P Dryja; L B Hahn; G S Cowley; T L McGee; E L Berson
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-15       Impact factor: 11.205
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  6 in total

1.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

Authors:  E E Tarttelin; C Plant; J Weissenbach; A C Bird; S S Bhattacharya; C F Inglehearn
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

3.  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 4.  Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Authors:  Muhammad Umar Ali; Muhammad Saif Ur Rahman; Jiang Cao; Ping Xi Yuan
Journal:  3 Biotech       Date:  2017-07-18       Impact factor: 2.406

5.  Codon preference optimization increases heterologous PEDF expression.

Authors:  Anzor G Gvritishvili; Kar Wah Leung; Joyce Tombran-Tink
Journal:  PLoS One       Date:  2010-11-30       Impact factor: 3.240

6.  Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.

Authors:  T L Kojis; C Heinzmann; P Flodman; J T Ngo; R S Sparkes; M A Spence; J B Bateman; J R Heckenlively
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025
  6 in total

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