Literature DB >> 8020986

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.

B Müller1, U Orth, C E van Nouhuys, C Duvigneau, C Fuhrmann, E Schwinger, H Laqua, A Gal.   

Abstract

Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. The disease locus has recently been assigned to 11q13-q23 by linkage studies in two families. Two-point analysis on a total of four families has now revealed close linkage (Zmax = 8.34 at theta = 0.00) between the disease locus and D11S873. Multipoint linkage analysis mapped the disease locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. No evidence appeared for genetic/linkage heterogeneity among the four families examined.

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Year:  1994        PMID: 8020986     DOI: 10.1006/geno.1994.1176

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  6 in total

1.  Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors:  Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-09-02       Impact factor: 11.025

2.  Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Authors:  C Toomes; L M Downey; H M Bottomley; H A Mintz-Hittner; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2005-02       Impact factor: 4.638

3.  Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Authors:  M A Bamashmus; L M Downey; C F Inglehearn; S R Gupta; D C Mansfield
Journal:  Br J Ophthalmol       Date:  2000-04       Impact factor: 4.638

4.  A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Authors:  L M Downey; T J Keen; E Roberts; D C Mansfield; M Bamashmus; C F Inglehearn
Journal:  Am J Hum Genet       Date:  2001-01-19       Impact factor: 11.025

5.  Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Authors:  H Kondo; H Hayashi; K Oshima; T Tahira; K Hayashi
Journal:  Br J Ophthalmol       Date:  2003-10       Impact factor: 4.638

6.  Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Authors:  Carmel Toomes; Helen M Bottomley; Richard M Jackson; Katherine V Towns; Sheila Scott; David A Mackey; Jamie E Craig; Li Jiang; Zhenglin Yang; Richard Trembath; Geoffrey Woodruff; Cheryl Y Gregory-Evans; Kevin Gregory-Evans; Michael J Parker; Graeme C M Black; Louise M Downey; Kang Zhang; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2004-03-11       Impact factor: 11.025

  6 in total

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