Literature DB >> 8110678

Manifesting heterozygosity in Norrie's disease?

G Woodruff1, R Newbury-Ecob, D S Plaha, I D Young.   

Abstract

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Mesh：

Year:  1993        PMID： 8110678      PMCID： PMC504662          DOI： 10.1136/bjo.77.12.813

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  8 in total

1.  HEREDITARY CATARACTS AND MICROPHTHALMIA.

Authors:  J A CAPELLA; H E KAUFMAN; F J LILL
Journal:  Am J Ophthalmol       Date:  1963-09       Impact factor: 5.258

2.  Isolation of a candidate gene for Norrie disease by positional cloning.

Authors:  W Berger; A Meindl; T J van de Pol; F P Cremers; H H Ropers; C Döerner; A Monaco; A A Bergen; R Lebo; M Warburg
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

3.  X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.

Authors:  V Godel; R M Goodman
Journal:  Clin Genet       Date:  1981-10       Impact factor: 4.438

4.  Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

Authors:  C S Richards; S C Watkins; E P Hoffman; N R Schneider; I W Milsark; K S Katz; J D Cook; L M Kunkel; J M Cortada
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

5.  Norrie's disease--differential diagnosis and treatment.

Authors:  M Warburg
Journal:  Acta Ophthalmol (Copenh)       Date:  1975-03

6.  X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

Authors:  P Fullwood; J Jones; S Bundey; J Dudgeon; A R Fielder; M W Kilpatrick
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

7.  Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Authors:  D Donnai; R C Mountford; A P Read
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

8.  Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.

Authors:  N Ohba; T Yamashita
Journal:  Br J Ophthalmol       Date:  1986-01       Impact factor: 4.638
  8 in total

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