- ►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
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
HL Rehm, GA Gutiérrez-Espeleta, R Garcia, G … - Human mutation, 1997 - interscience.wiley.com A large Costa Rican kindred has been identified with 15 males affected with
congenital blindness, progressive hearing loss, and venous insufficiency. Due to
ophthalmological and audio-otological findings, including bilateral retinal ... Cited by 14 - Related articles - BL Direct - All 3 versions
- ►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
IM MacDonald, R Sasi - Clinical and investigative medicine. Médecine clinique …, 1994 - ncbi.nlm.nih.gov In the past 10 y, there have been considerable advances in the mapping,
isolation, and characterization of many genes for important ocular conditions:
retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, ... Cited by 14 - Related articles - BL Direct - All 3 versions
CM Andreoli, IE Maumenee Hussels, D Zhu, … - Investigative Ophtalmology and Visual Science, 2004 - ARVO Methods:We identified a family with a boy with Norrie disease. DNA analysis
revealed a mutation in exon 3 of the Norrie gene (Glu75Stop). The mother was a
carrier of this mutation. She became pregnant with a boy determined to be a ... Cited by 2 - Related articles
CE Van Nouhuys - Fortschritte der Ophthalmologie: Zeitschrift der …, 1989 - ncbi.nlm.nih.gov Retinal detachment occurred in 36 (20%) of 180 eyes of 90 individuals with
familial exudative vitreoretinopathy (FEVR) from 17 families. FEVR can give rise
to very different types of retinal detachment, such as rhegmatogenous ... Cited by 9 - Related articles - All 2 versions
- ►iovs.org AV Ohlmann, E Adamek, A Ohlmann, E Lutjen … - Investigative ophthalmology & visual science, 2004 - ARVO RESULTS. Wild-type controls showed the typical pattern of hyaloid vessels, their
regression and concomitantly retinal vasculogenesis and angiogenesis. Hyaloid
vessels all stained for endostatin, whereas retinal vessels remained ... Cited by 23 - Related articles - BL Direct - All 3 versions
- ►jneurosci.org A Ohlmann, M Scholz, A Goldwich, BK … - Journal of Neuroscience, 2005 - Soc Neuroscience Norrie disease is an X-linked retinal dysplasia that presents with congenital
blindness, sensorineural deafness, and mental retardation. Norrin, the protein
product of the Norrie disease gene (NDP), is a secreted protein of unknown ... Cited by 24 - Related articles - All 10 versions
