Literature DB >> 3565487

Further linkage data on Norrie disease.

J D Kivlin, G E Sanborn, E Wright, L Cannon, J Carey.   

Abstract

We obtained a LOD score of +1.61 using DNA marker L1.28 in 5 generations of a family with Norrie disease, raising the total LOD score to +5.42. There have been no recombinations between the 2 loci in any family to date, making the marker useful for genetic counseling.

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Mesh：

Year:  1987        PMID： 3565487     DOI： 10.1002/ajmg.1320260329

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


  10 in total

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

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

2.  Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

Authors:  S Lindsay; D L Thiselton; J B Bateman; J T Ngo; R S Sparkes; M Coleman; K E Davies; S S Bhattacharya
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Defining DNA diagnostic tests appropriate or standard clinical care.

Authors:  R V Lebo; G Cunningham; M J Simons; L J Shapiro
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

4.  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

5.  Physical fine-mapping of a deletion spanning the Norrie gene.

Authors:  P J Diergaarde; B Wieringa; E M Bleeker-Wagemakers; K B Sims; X O Breakefield; H H Ropers
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

Review 6.  Familial exudative vitreoretinopathy and related retinopathies.

Authors:  D F Gilmour
Journal:  Eye (Lond)       Date:  2014-10-17       Impact factor: 3.775

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

Review 8.  Molecular genetics of retinitis pigmentosa.

Authors:  D B Farber; J R Heckenlively; R S Sparkes; J B Bateman
Journal:  West J Med       Date:  1991-10

9.  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

10.  Norrie disease gene is distinct from the monoamine oxidase genes.

Authors:  K B Sims; L Ozelius; T Corey; W B Rinehart; R Liberfarb; J Haines; W J Chen; R Norio; E Sankila; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025
  10 in total

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