Literature DB >> 1390533

Prenatal exclusion of Norrie's disease.

R M Redmond1, C A Graham, E D Kelly, M Coleman, N C Nevin.   

Abstract

We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.

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Year:  1992        PMID： 1390533      PMCID： PMC504324          DOI： 10.1136/bjo.76.8.491

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


  14 in total

1.  Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

Authors:  M Coleman; S Bhattacharya; S Lindsay; A Wright; M Jay; M Litt; I Craig; K Davies
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  New strategies in molecular genetic studies of X-linked retinitis pigmentosa.

Authors:  M Jay; C Inglehearn
Journal:  Eye (Lond)       Date:  1990       Impact factor: 3.775

3.  DNA analysis and recombination in X-linked retinitis pigmentosa.

Authors:  R M Redmond; C A Graham; I W Craig; N C Nevin; D B Archer
Journal:  Eye (Lond)       Date:  1990       Impact factor: 3.775

4.  Recombinational event between Norrie disease and DXS7 loci.

Authors:  J T Ngo; M A Spence; V Cortessis; R S Sparkes; J B Bateman
Journal:  Clin Genet       Date:  1988-07       Impact factor: 4.438

5.  First demonstration of recombination between the gene for Norrie disease and probe L1.28.

Authors:  S Katayama; M Wohlferd; M S Golbus
Journal:  Am J Med Genet       Date:  1988-08

6.  A rapid method for the purification of DNA from blood.

Authors:  M Jeanpierre
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

Review 7.  Prenatal exclusion of Norrie disease with flanking DNA markers.

Authors:  A Gal; S Uhlhaas; D Glaser; T Grimm
Journal:  Am J Med Genet       Date:  1988-10

8.  Norrie's disease.

Authors:  S S Johnston; J E Hanna; N C Nevin; J H Bryars
Journal:  Birth Defects Orig Artic Ser       Date:  1982

9.  Early amniocentesis: experience of 222 consecutive patients, 1987-1988.

Authors:  J Nevin; N C Nevin; J C Dornan; D Sim; M J Armstrong
Journal:  Prenat Diagn       Date:  1990-02       Impact factor: 3.050

10.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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