Literature DB >> 2574445

Carrier detection and prenatal diagnosis in Norrie disease.

D Curtis1, C E Blank, M A Parsons, H N Hughes.   

Abstract

We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.

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Year:  1989        PMID: 2574445     DOI: 10.1002/pd.1970091009

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age.

Authors:  M A Parsons; D Curtis; C E Blank; H N Hughes; A C McCartney
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1992       Impact factor: 3.117

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

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

3.  Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Authors:  J B Bateman; T L Kojis; R M Cantor; C Heinzmann; J T Ngo; M A Spence; G Inana; J D Kivlin; D Curtis; R S Sparkes
Journal:  Trans Am Ophthalmol Soc       Date:  1993
  3 in total

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