Literature DB >> 7835440

The molecular biology of Norrie's disease.

G Black1, R M Redmond.   

Abstract

The Norrie's disease gene has been accurately located on the short arm of the X chromosome. The methodology underlying this achievement and the structure of the three-exon gene is described in this review article. The clinical implications of these recent advances are discussed. Allelic variants of Norrie's disease and the phenomenon of females affected by X-linked disease are also discussed.

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Mesh：

Year:  1994        PMID： 7835440     DOI： 10.1038/eye.1994.124

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


  4 in total

1.  Norrie disease and peripheral venous insufficiency.

Authors:  M Michaelides; P J Luthert; R Cooling; H Firth; A T Moore
Journal:  Br J Ophthalmol       Date:  2004-11       Impact factor: 4.638

Review 2.  Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.

Authors:  A A Timur; D J Driscoll; Q Wang
Journal:  Cell Mol Life Sci       Date:  2005-07       Impact factor: 9.261

3.  A fetus with an X;1 balanced reciprocal translocation and eye disease.

Authors:  M J Seller; K Pal; S Horsley; A F Davies; A C Berry; R Meredith; A C McCartney
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

4.  Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes.

Authors:  Willi Halfter; Suzette Moes; Daphne O Asgeirsson; Kathrin Halfter; Philipp Oertle; Esther Melo Herraiz; Marija Plodinec; Paul Jenoe; Paul Bernhard Henrich
Journal:  PLoS One       Date:  2017-12-28       Impact factor: 3.240
  4 in total

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