Literature DB >> 7891370

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

P J Rosenfeld1, V A McKusick, J S Amberger, T P Dryja.   

Abstract

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Year:  1994        PMID： 7891370      PMCID： PMC1016688          DOI： 10.1136/jmg.31.12.903

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


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  188 in total

1.  Molecular genetics of inherited variation in human color vision.

Authors:  J Nathans; T P Piantanida; R L Eddy; T B Shows; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728

2.  Typical total monochromacy. A histological and psychophysical study.

Authors:  H F Falls; J R Wolter; M Alpern
Journal:  Arch Ophthalmol       Date:  1965-11

3.  Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

Authors:  D J Barrett; J B Bateman; R S Sparkes; T Mohandas; I Klisak; G Inana
Journal:  Invest Ophthalmol Vis Sci       Date:  1987-07       Impact factor: 4.799

4.  Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Authors:  V Ramesh; R Eddy; G A Bruns; V E Shih; T B Shows; J F Gusella
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

5.  Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.

Authors:  R E Ferrell; H M Hittner; J H Antoszyk
Journal:  Am J Hum Genet       Date:  1983-01       Impact factor: 11.025

6.  Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.

Authors:  S S Bhattacharya; A F Wright; J F Clayton; W H Price; C I Phillips; C M McKeown; M Jay; A C Bird; P L Pearson; E M Southern
Journal:  Nature       Date:  1984 May 17-23       Impact factor: 49.962

7.  Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).

Authors:  L Tranebjaerg; O Sjø; M Warburg
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

8.  Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Authors:  L Pentao; R A Lewis; D H Ledbetter; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

9.  Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.

Authors:  J Nathans; D Thomas; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728

10.  Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Authors:  D Valle; M I Kaiser-Kupfer; L A Del Valle
Journal:  Proc Natl Acad Sci U S A       Date:  1977-11       Impact factor: 11.205
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  5 in total

1.  Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype.

Authors:  J T Chang; S Milligan; Y Li; C E Chew; J Wiggs; N G Copeland; N A Jenkins; P A Campochiaro; D R Hyde; D J Zack
Journal:  J Neurosci       Date:  1997-08-01       Impact factor: 6.167

2.  Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.

Authors:  T J Keen; A G Morris; C F Inglehearn
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 3.  Gene-based approach to human gene-phenotype correlations.

Authors:  T P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-28       Impact factor: 11.205

4.  A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

Authors:  M Bayés; B Goldaracena; A Martínez-Mir; M I Iragui-Madoz; T Solans; P Chivelet; E Bussaglia; M A Ramos-Arroyo; M Baiget; L Vilageliu; S Balcells; R Gonzàlez-Duarte; D Grinberg
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

5.  Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Authors:  A Camuzat; J M Rozet; H Dollfus; S Gerber; I Perrault; J Weissenbach; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132
  5 in total

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