Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy (original) (raw)
Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families
William Frank
Genetics in Medicine, 2000
View PDFchevron_right
Genetic Refinement of Dominant Optic Atrophy (OPA1) Locus to Within a 2 CM Interval of Chromosome 3q.
Marcela Votruba
Journal of medical genetics, 1997
View PDFchevron_right
Clinical Features, Molecular Genetics, and Pathophysiology of Dominant Optic Atrophy.
Marcela Votruba
Journal of medical genetics, 1998
View PDFchevron_right
Genetic testing for optic atrophy
andi abeshi
The EuroBiotech Journal, 2017
View PDFchevron_right
Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter
Marcela Votruba
Documenta ophthalmologica. Advances in ophthalmology
View PDFchevron_right
Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family
Golge ACAROGLU
Neuro-Ophthalmology, 2005
View PDFchevron_right
Retinal dysfunction characterizes subtypes of dominant optic atrophy
Stefania Marzoli
Acta Ophthalmologica, 2017
View PDFchevron_right
Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)
Elias Traboulsi
American Journal of Ophthalmology, 1993
View PDFchevron_right
Profile of optic atrophy presented in the neuro-ophthalmology department of the tertiary eye care center
hari thapa
Asian Journal of Medical Sciences
View PDFchevron_right
Dominant optic atrophy
Patrizia Amati-bonneau
Orphanet Journal of Rare Diseases, 2012
View PDFchevron_right
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q
Josseline Kaplan
European Journal of Human Genetics, 2003
View PDFchevron_right
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families
Elena Cardaioli
Journal of the Neurological Sciences, 2017
View PDFchevron_right
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
iain hargreaves
Neurology Genetics, 2019
View PDFchevron_right
Similarities between Congenital Tritan Defects and Dominant Optic-Nerve Atrophy: Coincidence or Identity?
Joel Pokorny
Journal of the Optical Society of America, 1970
View PDFchevron_right
Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report
RAJESH PRABU
The Official Scientific Journal of Delhi Ophthalmological Society, 2020
View PDFchevron_right
An aetiological profile of optic atrophy
Adarsh Arya
Acta Ophthalmologica, 2009
View PDFchevron_right
Clinical Assessment and Etiological Evaluation of Optic Nerve Atrophy
Sanjeeta Sitaula
Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH, 2021
View PDFchevron_right
A review of primary hereditary optic neuropathies
Saima Aijaz
Journal of inherited metabolic disease, 2003
View PDFchevron_right
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
Marcela Votruba
British journal of …, 2003
View PDFchevron_right
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
Qingjiong Zhang
Molecular vision, 2013
View PDFchevron_right
Optic atrophy in children: Current causes and diagnostic approach
Dilys Oladiwura
European Journal of Ophthalmology, 2020
View PDFchevron_right
Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level
Miguel Castelo-Branco
2013
View PDFchevron_right
Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer
L. Heredero
American journal of human genetics, 1995
View PDFchevron_right
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
Patrizia Amati-bonneau
Journal of Medical Genetics, 2004
View PDFchevron_right
Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study
Rufino Silva
Graefes Archive for Clinical and Experimental Ophthalmology, 2019
View PDFchevron_right
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy
Vladimir Mayorov
Genetics in Medicine, 2006
View PDFchevron_right
Study of Aetiology of Optic Atrophy
RAMA PRIYA R
Journal of Evidence Based Medicine and Healthcare, 2020
View PDFchevron_right
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing
Anna Skorczyk-werner
Intractable & Rare Diseases Research
View PDFchevron_right
First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation
Smaragda Kamakari
Molecular Vision, 2014
View PDFchevron_right
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
Niels Tommerup
European Journal of Human Genetics, 2001
View PDFchevron_right
Dissociation of Pupillary Post-Illumination Responses from Visual Function in Confirmed OPA1 c.983A > G and c.2708_2711delTTAG Autosomal Dominant Optic Atrophy
Birgit Sander
Frontiers in Neurology, 2015
View PDFchevron_right