Literature DB >> 1404299

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

C Bell1, C A Converse, M F Collins, L Esakowitz, K F Kelly, N E Haites.   

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Year:  1992        PMID： 1404299      PMCID： PMC1016102          DOI： 10.1136/jmg.29.9.667

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


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  9 in total

1.  Patterns of DNA methylation are indistinguishable in different individuals over a wide range of human DNA sequences.

Authors:  A Behn-Krappa; I Hölker; U Sandaradura de Silva; W Doerfler
Journal:  Genomics       Date:  1991-09       Impact factor: 5.736

2.  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

3.  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

4.  Role of the intradiscal domain in rhodopsin assembly and function.

Authors:  T Doi; R S Molday; H G Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  1990-07       Impact factor: 11.205

5.  Assignment of the rhodopsin gene to human chromosome 3.

Authors:  R S Sparkes; T Mohandas; S L Newman; C Heinzmann; D Kaufman; S Zollman; P J Leveille; A J Tobin; J F McGinnis
Journal:  Invest Ophthalmol Vis Sci       Date:  1986-07       Impact factor: 4.799

6.  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

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 study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity.

Authors:  S Bundey; S J Crews
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318
  9 in total
  6 in total

1.  Molecular genetics as a 'probe' in ophthalmology.

Authors:  N Haites
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

2.  Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q.

Authors:  C Inglehearn; J Farrar; M Denton; A Gal; P Humphries; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

3.  Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

Authors:  Z Mohamed; C Bell; H M Hammer; C A Converse; L Esakowitz; N E Haites
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

4.  Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.

Authors:  R Kumar-Singh; H Wang; P Humphries; G J Farrar
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

5.  Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Authors:  J P Macke; C M Davenport; S G Jacobson; J C Hennessey; F Gonzalez-Fernandez; B P Conway; J Heckenlively; R Palmer; I H Maumenee; P Sieving
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.

Authors:  C Bell; C A Converse; H M Hammer; A Osborne; N E Haites
Journal:  Br J Ophthalmol       Date:  1994-12       Impact factor: 4.638
  6 in total

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