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Volumn 78, Issue 6, 2002, Pages 529-532

Report of a Brazilian patient with Wolfram Syndrome;Relato de um paciente Brasileiro com síndrome de Wolfram

Author keywords

Diabetes; DIDMOAD; Wolfram syndrome; Wolframin

Indexed keywords

INSULIN;

EID: 0036876516     PISSN: 00217557     EISSN: None     Source Type: Journal    
DOI: 10.2223/jped.911     Document Type: Article
Times cited : (7)

References (8)
  • 1
    • 84889117306 scopus 로고    scopus 로고
    • OMIM - Online Mendelian Inheritance in Man: http://www3.ncbi.nlm.nih.gov.
  • 2
    • 0030826078 scopus 로고    scopus 로고
    • Wolfram (DIDMOAD) syndrome
    • Barret TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34(10):838-41.
    • (1997) J Med Genet , vol.34 , Issue.10 , pp. 838-841
    • Barret, T.G.1    Bundey, S.E.2
  • 3
    • 0033942396 scopus 로고    scopus 로고
    • Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    • El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229-36.
    • (2000) Am J Hum Genet , vol.66 , pp. 1229-1236
    • El-Shanti, H.1    Lidral, A.C.2    Jarrah, N.3    Druhan, L.4    Ajlouni, K.5
  • 4
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barret TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. The Lancet 1995;346:1458-63.
    • (1995) The Lancet , vol.346 , pp. 1458-1463
    • Barret, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 5
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframina) coding for a predicted transmembrane protein
    • Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframina) coding for a predicted transmembrane protein. Hum Mol Genet 1998;7(13):2021-8.
    • (1998) Hum Mol Genet , vol.7 , Issue.13 , pp. 2021-2028
    • Strom, T.M.1    Hörtnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6
  • 8
    • 0022048993 scopus 로고
    • Linkage between the genes for Wolfram syndrome and brachydactyly E
    • Bale AE, Ludwig IH, Effron LA, Zakov ZN. Linkage between the genes for Wolfram syndrome and brachydactyly E [letter). Am J Med Genet 1985;20:733-4.
    • (1985) Am J Med Genet , vol.20 , pp. 733-734
    • Bale, A.E.1    Ludwig, I.H.2    Effron, L.A.3    Zakov, Z.N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.