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Volumn 31, Issue 9, 2008, Pages 1743-1745

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): Clinical and genetic study

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 4; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DIABETES INSIPIDUS; DIABETES MELLITUS; EXON; FEMALE; FOLLOW UP; GENE; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MALE; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; POLYMERASE CHAIN REACTION; PREVALENCE; WFS1 GENE; WOLFRAM SYNDROME; BRAIN; CHROMOSOME MAP; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

EID: 56149097205     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc08-0178     Document Type: Article
Times cited : (44)

References (11)
  • 1
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346:1458-1463, 1995
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 5
    • 18444415128 scopus 로고    scopus 로고
    • Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome
    • Pakdemirli E, Karabulut N, Bir LS, Sermez Y: Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. Australas Radiol 49:189-191, 2005
    • (2005) Australas Radiol , vol.49 , pp. 189-191
    • Pakdemirli, E.1    Karabulut, N.2    Bir, L.S.3    Sermez, Y.4
  • 6
    • 0037234663 scopus 로고    scopus 로고
    • An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient
    • Piccoli GB, Mezza E, Jeantet A, Segoloni JP: An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient. Nephrol Dial Transplant 18: 206-208, 2003
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 206-208
    • Piccoli, G.B.1    Mezza, E.2    Jeantet, A.3    Segoloni, J.P.4
  • 9
    • 3342905028 scopus 로고    scopus 로고
    • Phenotype-genotype correlations in a series of Wolfram syndrome families
    • Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ: Phenotype-genotype correlations in a series of Wolfram syndrome families. Diabetes Care 27:2003-2009, 2004
    • (2004) Diabetes Care , vol.27 , pp. 2003-2009
    • Smith, C.J.1    Crock, P.A.2    King, B.R.3    Meldrum, C.J.4    Scott, R.J.5
  • 11
    • 24644480656 scopus 로고    scopus 로고
    • Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells
    • Philbrook C, Fritz E, Weiher H: Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exper Gerontol 40:671-678, 2005
    • (2005) Exper Gerontol , vol.40 , pp. 671-678
    • Philbrook, C.1    Fritz, E.2    Weiher, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.