Literature DB >> 15067422

[Bilateral progressive optic atrophy and without diabetic retinopathy in a young diabetic patient. Wolfram syndrome: diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD)].

C H Meyer1, E B Rodrigues, J C Schmidt.   

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Year:  2004        PMID： 15067422     DOI： 10.1007/s00347-003-0833-z

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN： 0941-293X            Impact factor:   1.059


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  4 in total

1.  Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

Authors:  H El-Shanti; A C Lidral; N Jarrah; L Druhan; K Ajlouni
Journal:  Am J Hum Genet       Date:  2000-03-14       Impact factor: 11.025

2.  Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria.

Authors:  G Niemeyer; J L Marquardt
Journal:  Invest Ophthalmol       Date:  1972-07

3.  HLA type and islet cell antibody status in family with (diabetes insipidus and mellitus, optic atrophy, and deafness) DIDMOAD syndrome.

Authors:  J P Monson; B J Boucher
Journal:  Lancet       Date:  1983-06-04       Impact factor: 79.321

4.  Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

Authors:  T M Strom; K Hörtnagel; S Hofmann; F Gekeler; C Scharfe; W Rabl; K D Gerbitz; T Meitinger
Journal:  Hum Mol Genet       Date:  1998-12       Impact factor: 6.150
  4 in total

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