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Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 11/2018, Volume 256, Issue 11, pp. 2149 - 2156
To describe and analyse the clinical and genetic characteristics of digenic familial exudative vitreoretinopathy (FEVR).The study cohort consisted of patients... 
Phenotype | Digenic FEVR | Ophthalmology | FEVR | Medicine & Public Health | Gene | VARIANTS | FZD4 | LRP5 | OPHTHALMOLOGY | MUTATIONS | SPECTRUM | IDENTIFICATION | Medicine, Experimental | Medical research | Anopheles | Genetic aspects | Analysis | Familial exudative vitreoretinopathy | Phenotypes | Genetic analysis | LRP5 protein | Mutation | Age | Genotypes
Journal Article
Journal Article
Journal Article
JAMA ophthalmology, ISSN 2168-6165, 06/2019, Volume 137, Issue 9, p. 1059
Journal Article
Turk Oftalmoloiji Dergisi, ISSN 1300-0659, 08/2015, Volume 45, Issue 4, pp. 164 - 168
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP,... 
Familial exudative vitreoretinopathy | LRP5 | FZD | NDP | TSPAN12
Journal Article
JAMA ophthalmology, ISSN 2168-6165, 06/2019, Volume 137, Issue 9, p. 1054
Familial exudative vitreoretinopathy (FEVR) with only-unilateral abnormalities may masquerade as other vitreoretinal disorders. Clinicians should be vigilant... 
Medical imaging | Angiography | Genes | Medical records | Retina | Patients | Genetic screening | Eye | Familial exudative vitreoretinopathy | Vision | LRP5 protein | Mutation | Diagnosis
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2018, Volume 59, Issue 15, pp. 5726 - 5734
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2019, Volume 60, Issue 7, pp. 2659 - 2666
PURPOSE. The purpose of this study was to investigate the genetic mutation spectrum in Chinese patients with familial exudative vitreoretinopathy-associated... 
next-generation sequencing | FZD4 | genetic mutation spectrum | SURGICAL OUTCOMES | CLINICAL-FEATURES | IDENTIFICATION | TSPAN12 | genotype-phenotype association | rhegmatogenous retinal detachment | ZNF408 | GENES | OPHTHALMOLOGY | LRP5 MUTATIONS | familial exudative vitreoretinopathy | NDP | CHINESE PATIENTS
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 11/2018, Volume 59, Issue 13, pp. 5368 - 5381
PURPOSE. To identify potentially pathogenic variants (PPVs) in Chinese familial exudative vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12,... 
PPVs | Familial exudative vitreoretinopathy (FEVR) | Cosegregation | VASCULAR DEVELOPMENT | GENE-MUTATIONS | NORRIE-DISEASE | LRP5 | TSPAN12 | IDENTIFICATION | MUTATION SPECTRUM | NDP GENE | familial exudative vitreoretinopathy (FEVR) | KIF11 MUTATIONS | cosegregation | FZD4 MUTATIONS | OPHTHALMOLOGY
Journal Article
Journal Article
Journal Article
Guoji Yanke Zazhi, ISSN 1672-5123, 11/2018, Volume 18, Issue 11, pp. 1978 - 1981
Familial exudative vitreoretinopathy(FEVR)is a rare inherited disorder of retinal angiogenesis. It is characterized by avascular peripheral retina. Mutations... 
treatment | diagnosis | familial exudative vitreoretinopathy
Journal Article
International Ophthalmology, ISSN 0165-5701, 04/2019, Volume 39, Issue 4, pp. 935 - 941
PurposeTo report the identical twins who had mirror fundus and angiographic images of familial exudative vitreoretinopathy (FEVR).Case presentationA pair of 16... 
Familial exudative vitreoretinopathy | Identical twins | Mirror-image phenomenon | OPHTHALMOLOGY | MUTATIONS | Eye diseases | Genetic aspects | Ophthalmology | Twins | Pathogenesis | Images | Disorders | Visual acuity | Genetics | Heredity | Exudation | Children | Acuity
Journal Article
Asia-Pacific Journal of Ophthalmology, 05/2018, Volume 7, Issue 3, pp. 176 - 182
Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by anomalous retinal vascular development. The principal feature of... 
familial exudative vitreoretinopathy | FEVR | Retinal Diseases - diagnosis | Humans | Retinal Diseases - therapy | Retinal Diseases - physiopathology | Visual Acuity | Diagnostic Techniques, Ophthalmological | Genetic Therapy - methods | Vitreoretinal Surgery - methods
Journal Article
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