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Scholar Results 1 - 10 of about 101 related to Toomes: Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy;.... (0.10 sec) 

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; …

- bmj.com
C Toomes, LM Downey, HM Bottomley, HA … - British Medical Journal, 2005 - bjo.bmj.com
Background/aims: Familial exudative vitreoretinopathy (FEVR) is an inherited
blinding condition characterised by abnormal development of the retinal
vasculature. The aim of this study was to perform linkage analysis in a ...
Cited by 16 - Related articles - All 12 versions

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)


C Toomes, LM Downey, HM Bottomley, S Scott … - Mol Vis, 2004 - molvis.org
Purpose: Familial exudative vitreoretinopathy (FEVR) is a genetically
heterogeneous inherited blinding disorder of the retinal vascular system. To
date three loci have been mapped: EVR1 on chromosome 11q, EVR2 on ...
Cited by 21 - Related articles - Cached - All 3 versions

Norrie disease and peripheral venous insufficiency

- nih.gov - Free from Publisher
M Michaelides, PJ Luthert, AT Moore, R … - British Journal of Ophthalmology, 2004 - bjo.bmj.com
More than 100 different mutations of the ND gene, NDP, have been identified. 2
Germ line mutations in NDP have also been identified in X linked familial
exudative vitreoretinopathy (FEVR) and in retinopathy of prematurity (ROP). ...
Cited by 11 - Related articles - All 8 versions

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy …


M Qin, H Hayashi, K Oshima, T Tahira, K … - Human mutation, 2005 - interscience.wiley.com
Familial exudative vitreoretinopathy (FEVR) is a hereditary blinding disorder
that features defects in retinal vascular development. The mutations in the
genes encoding the Wnt receptor pair, frizzled 4 (FZD4) and low-density- ...
Cited by 23 - Related articles - BL Direct - All 5 versions

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy $# …


C Toomes, LM Downey, HM Bottomley, HA … - The British Journal of Ophthalmology, 2005 - ukpmc.ac.uk
Background/aims: Familial exudative vitreoretinopathy (FEVR) is an inherited
blinding condition characterised by abnormal development of the retinal
vasculature. The aim of this study was to perform linkage analysis in a ...
Related articles

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to …

- nih.gov [PDF] 
LM Downey, TJ Keen, E Roberts, DC … - The American Journal of Human Genetics, 2001 - Elsevier
We report a new locus for familial exudative vitreoretinopathy (FEVR), on
chromosome 11p12-13 in a large autosomal dominant pedigree. Statistically
significant linkage was achieved across a 14-cM interval flanked by markers ...
Cited by 31 - Related articles - BL Direct - All 8 versions

[CITATION] en Oversigt


NGN Blindhedsaarsager, 1933 - Hospitalstidende
Cited by 3 - Related articles

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity


G De Crecchio, F Simonelli, G Nunziata, S … - Clinical genetics, 1998 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Cited by 31 - Related articles - BL Direct - All 5 versions

Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction


UFO Luhmann, D Meunier, W Shi, A Lüttges, C … - Developmental Genetics - interscience.wiley.com
Mutations in the Norrie disease pseudoglioma gene (NDP) are known to cause
X-linked recessive Norrie disease. In addition, NDP mutations have been found in
other vasoproliferative retinopathies such as familial exudative ...
Cited by 11 - Related articles - BL Direct - All 4 versions

Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous* 1


A Chang-Godinich, EA Paysse, DK Coats, ER … - American journal of ophthalmology, 1999 - Elsevier
Methods: Case report. A 6-day-old girl had unilateral microphthalmia in the
right eye, with a retrolental plaque initially diagnosed as persistent
hyperplastic primary vitreous. Three months later, peripheral retinal ...
Cited by 7 - Related articles - BL Direct - All 8 versions


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