Literature DB >> 3068991

Prenatal exclusion of Norrie disease with flanking DNA markers.

A Gal1, S Uhlhaas, D Glaser, T Grimm.   

Abstract

Three polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten-wk-old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.

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Year:  1988        PMID： 3068991     DOI： 10.1002/ajmg.1320310225

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Prenatal exclusion of Norrie's disease.

Authors:  R M Redmond; C A Graham; E D Kelly; M Coleman; N C Nevin
Journal:  Br J Ophthalmol       Date:  1992-08       Impact factor: 4.638

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

3.  A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.

Authors:  N T Bech-Hansen; L L Field; A M Schramm; M Reedyk; I W Craig; N J Fraser; W G Pearce
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

4.  Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

Authors:  G Wolff; A Mayerová; T F Wienker; P Atalianis; P Ioannou; M Warburg
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318
  4 in total

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