Literature DB >> 4502353

Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families.

D P Smith.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 4502353     DOI： 10.1097/00006324-197203000-00001

Source DB:  PubMed          Journal:  Am J Optom Arch Am Acad Optom        ISSN： 0002-9408


× No keyword cloud information.
  10 in total

Review 1.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

2.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

Review 3.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

4.  Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

Authors:  R M Chalmers; A C Bird; A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-02       Impact factor: 10.154

5.  Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

6.  Short wavelength-automated perimetry compared with standard achromatic perimetry in autosomal dominant optic atrophy.

Authors:  J W Walters; A Gaume; L Pate
Journal:  Br J Ophthalmol       Date:  2006-07-12       Impact factor: 4.638

7.  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.

Authors:  A Lunkes; U Hartung; C Magariño; M Rodríguez; A Palmero; L Rodríguez; L Heredero; J Weissenbach; J Weber; G Auburger
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis.

Authors:  G Del Porto; E M Vingolo; K Steindl; R Forte; A Iannaccone; E Rispoli; M R Pannarale
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-12       Impact factor: 3.117

9.  Electrophysiology and colour perimetry in dominant infantile optic atrophy.

Authors:  T A Berninger; W Jaeger; H Krastel
Journal:  Br J Ophthalmol       Date:  1991-01       Impact factor: 4.638

10.  Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

Authors:  Alberto Galvez-Ruiz
Journal:  Saudi J Ophthalmol       Date:  2015-04-16
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.