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Volumn 30, Issue 34, 2001, Pages 1689-1694

Pendred's syndrome: Current concept;Le syndrome de Pendred: Aspects actuels

Author keywords

[No Author keywords available]

Indexed keywords

IODIDE;

EID: 0035904695     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (41)
  • 4
    • 0346154518 scopus 로고
    • Association of congenital deafness with goitre (Pendred's syndrome)
    • (1965) Ann JumGenet , vol.28 , pp. 201-249
    • Fraser, G.R.1
  • 10
    • 0033062827 scopus 로고    scopus 로고
    • Pendred's syndrome: Identification of the genetic defect a century after its recognition
    • (1999) Thyroid , vol.9 , pp. 65-69
    • Kopp, P.1
  • 21
    • 8244263673 scopus 로고    scopus 로고
    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • (1996) Nat Genet , vol.12 , pp. 421-423
    • Coyle, B.1    Coffey, R.2    Armour, J.A.3
  • 28
    • 0034039614 scopus 로고    scopus 로고
    • Deafness heterogeneity in a Druze isolate from the Middle East: Novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus
    • (2000) Eur J Hum Genet , vol.8 , pp. 437-442
    • Adato, A.1    Raskin, L.2    Petit, C.3
  • 31
    • 0034463973 scopus 로고    scopus 로고
    • Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
    • (2000) Endocrinology , vol.141 , pp. 839-845
    • Royaux, I.E.1    Suzuki, K.2    Mori, A.3
  • 41
    • 0034235222 scopus 로고    scopus 로고
    • Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
    • (2000) Hum Mol Genet , vol.9 , pp. 1709-1715
    • Scott, D.A.1    Wang, R.2    Kreman, T.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.