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Volumn 31, Issue 4, 2010, Pages 227-229

Congenital cataracts in two siblings with Wolfram Syndrome

Author keywords

Congenital cataracts; DIDMOAD (Diabetes, insipidus, diabetes mellitus, optic atrophy and deafness); WFS1; Wolfram syndrome

Indexed keywords

METHYLPHENIDATE;

EID: 78649305551     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.516056     Document Type: Article
Times cited : (11)

References (8)
  • 1
    • 35348939526 scopus 로고    scopus 로고
    • A homozygous mutation in a novel zinc-fnger protein, ERIS, is responsible for Wolfram syndrome 2
    • Amr, S, Heisey C, Zhang M, et al. A homozygous mutation in a novel zinc-fnger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007;81: 673-683.
    • (2007) Am J Hum Genet. , vol.81 , pp. 673-683
    • Amr, S.1    Heisey, C.2    Zhang, M.3
  • 2
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wol-framin) coding for a predicted transmembrane protein
    • Strom TM, Hortnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wol-framin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7:2021-2028.
    • (1998) Hum Mol Genet. , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hortnagel, K.2    Hofmann, S.3
  • 3
    • 0036015658 scopus 로고    scopus 로고
    • Ophthalmologic fndings in 15 patients with Wolfram syndrome
    • Al-Till M, Jarrah NS, Ajlouni KM. Ophthalmologic fndings in 15 patients with Wolfram syndrome. Eur J Ophthalmol. 2002;12:84-88.
    • (2002) Eur J Ophthalmol. , vol.12 , pp. 84-88
    • Al-Till, M.1    Jarrah, N.S.2    Ajlouni, K.M.3
  • 4
    • 30744434434 scopus 로고    scopus 로고
    • Mutation analysis of the WFSq gene in seven Danish Wolfram syndrome families; Four new mutations identifed
    • Hansen, L, Eiberg H, Barrett T, et al. Mutation analysis of the WFSq gene in seven Danish Wolfram syndrome families; four new mutations identifed. Eur J Hum Genet. 2005;13:1275-1284.
    • (2005) Eur J Hum Genet. , vol.13 , pp. 1275-1284
    • Hansen, L.1    Eiberg, H.2    Barrett, T.3
  • 5
    • 0033969174 scopus 로고    scopus 로고
    • Uncommon ophthal-mologic fndings associated with Wolfram syndrome
    • Castro FJ, Barrio J, Perena MF, et al. Uncommon ophthal-mologic fndings associated with Wolfram syndrome. Acta Ophthalmol Scand. 2000;78:118-119.
    • (2000) Acta Ophthalmol Scand. , vol.78 , pp. 118-119
    • Castro, F.J.1    Barrio, J.2    Perena, M.F.3
  • 6
    • 0033852617 scopus 로고    scopus 로고
    • A DIDMOAD syndrome family with juvenile glaucoma and myopia fndings
    • Bekir NA, Gungor K, Guran S. A DIDMOAD syndrome family with juvenile glaucoma and myopia fndings. Acta Ophthalmol Scand. 2000;78:480-482.
    • (2000) Acta Ophthalmol Scand. , vol.78 , pp. 480-482
    • Bekir, N.A.1    Gungor, K.2    Guran, S.3
  • 8
    • 0035888617 scopus 로고    scopus 로고
    • Non-Syndromic progressive hearing loss DFNA38 is caused by a heterozygous missense mutation in the Wolfram syndrome gene WFS1
    • Young T, Ives E, Lynch E, et al. Non-Syndromic progressive hearing loss DFNA38 is caused by a heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet. 2001;10:2509-2514.
    • (2001) Hum Mol Genet. , vol.10 , pp. 2509-2514
    • Young, T.1    Ives, E.2    Lynch, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.