Literature DB >> 12386098

Importance of molecular testing in dominant optic atrophy.

N Patel, A J Churchill, C Toomes, N J Marchbank, C F Inglehearn, N Foulds, A Moosavi, M Teimory.   

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Year:  2002        PMID： 12386098      PMCID： PMC1771346          DOI： 10.1136/bjo.86.11.1314

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  6 in total

1.  A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Authors:  D L Thiselton; C Alexander; A Morris; S Brooks; T Rosenberg; H Eiberg; B Kjer; P Kjer; S S Bhattacharya; M Votruba
Journal:  Hum Genet       Date:  2001-10-03       Impact factor: 4.132

2.  Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

Authors:  J B Kerrison; V J Arnould; J M Ferraz Sallum; M R Vagefi; M M Barmada; Y Li; D Zhu; I H Maumenee
Journal:  Arch Ophthalmol       Date:  1999-06

3.  Mutation spectrum and splicing variants in the OPA1 gene.

Authors:  C Delettre; J M Griffoin; J Kaplan; H Dollfus; B Lorenz; L Faivre; G Lenaers; P Belenguer; C P Hamel
Journal:  Hum Genet       Date:  2001-10-30       Impact factor: 4.132

4.  Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Authors:  M Votruba; F W Fitzke; G E Holder; A Carter; S S Bhattacharya; A T Moore
Journal:  Arch Ophthalmol       Date:  1998-03

5.  Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Authors:  C Toomes; N J Marchbank; D A Mackey; J E Craig; R A Newbury-Ecob; C P Bennett; C J Vize; S P Desai; G C Black; N Patel; M Teimory; A F Markham; C F Inglehearn; A J Churchill
Journal:  Hum Mol Genet       Date:  2001-06-15       Impact factor: 6.150

6.  Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

Authors:  B Kjer; H Eiberg; P Kjer; T Rosenberg
Journal:  Acta Ophthalmol Scand       Date:  1996-02
  6 in total

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