Literature DB >> 8728710

Simple tests for rhodopsin involvement in retinitis pigmentosa.

E Tarttelin, M Al-Maghtheh, J Keen, S Bhattacharya, C Inglehearn.   

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Year:  1996        PMID： 8728710      PMCID： PMC1051889          DOI： 10.1136/jmg.33.3.262

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


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  13 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.  Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.

Authors:  J Keen; D Lester; C Inglehearn; A Curtis; S Bhattacharya
Journal:  Trends Genet       Date:  1991-01       Impact factor: 11.639

3.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

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

Authors:  P McWilliam; G J Farrar; P Kenna; D G Bradley; M M Humphries; E M Sharp; D J McConnell; M Lawler; D Sheils; C Ryan
Journal:  Genomics       Date:  1989-10       Impact factor: 5.736

5.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

Review 6.  Recent advances in the molecular genetics of retinitis pigmentosa.

Authors:  M X Wang; R S Sando; A S Crandall; L A Donoso
Journal:  Curr Opin Ophthalmol       Date:  1995-06       Impact factor: 3.761

7.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; E Reichel; L B Hahn; G S Cowley; D W Yandell; M A Sandberg; E L Berson
Journal:  Nature       Date:  1990-01-25       Impact factor: 49.962

8.  Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Authors:  C H Sung; C M Davenport; J C Hennessey; I H Maumenee; S G Jacobson; J R Heckenlively; R Nowakowski; G Fishman; P Gouras; J Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

9.  A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Authors:  P J Rosenfeld; G S Cowley; T L McGee; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

10.  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
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  1 in total

1.  RP11 is the second most common locus for dominant retinitis pigmentosa.

Authors:  E Vithana; M Al-Maghtheh; S S Bhattacharya; C F Inglehearn
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318
  1 in total

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