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Volumn 11, Issue 4, 2007, Pages 455-458

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates

Author keywords

[No Author keywords available]

Indexed keywords

TRYPTOPHAN;

EID: 38149043590     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0048     Document Type: Article
Times cited : (34)

References (19)
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    • 24344462548 scopus 로고    scopus 로고
    • High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive nonsyndromic hearing loss
    • Álvarez A, Castillo Id, Villamar M, Aguirre LA, González-Neira A, López-Nevot A, Moreno-Pelayo MA, Moreno F (2005) High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive nonsyndromic hearing loss. Am J Med Genet Part A 137A:255-258.
    • (2005) Am J Med Genet , vol.137 A , Issue.PART A , pp. 255-258
    • Álvarez, A.1    Castillo, I.2    Villamar, M.3    Aguirre, L.A.4    González-Neira, A.5    López-Nevot, A.6    Moreno-Pelayo, M.A.7    Moreno, F.8
  • 3
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian E-N, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet 353:1298-1303.
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.-N.6    Petit, C.7
  • 5
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green G, Scott D, McDonald J, Woodworth G, Sheffield V, Smith R (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-2216.
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.1    Scott, D.2    McDonald, J.3    Woodworth, G.4    Sheffield, V.5    Smith, R.6
  • 9
    • 27744475269 scopus 로고    scopus 로고
    • A newly discovered founder population: The Roma/Gypsies
    • Kalaydjieva L, Morar B, Chaix R, Tang H (2005) A newly discovered founder population: the Roma/Gypsies. Bioessays 27:1084-1094.
    • (2005) Bioessays , vol.27 , pp. 1084-1094
    • Kalaydjieva, L.1    Morar, B.2    Chaix, R.3    Tang, H.4
  • 10
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • Kenneson A, Braun KVN, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med 4:258-274.
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Braun, K.V.N.2    Boyle, C.3
  • 11
    • 0036363375 scopus 로고    scopus 로고
    • The Colorado Newborn Hearing Screening Project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening
    • Mehl AL, Thomson V (2002) The Colorado Newborn Hearing Screening Project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening. Pediatrics 109:e7.
    • (2002) Pediatrics , vol.109
    • Mehl, A.L.1    Thomson, V.2
  • 12
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    • Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L (2003) High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 22:549-556.
    • (2003) Gen Physiol Biophys , vol.22 , pp. 549-556
    • Minarik, G.1    Ferak, V.2    Ferakova, E.3    Ficek, A.4    Polakova, H.5    Kadasi, L.6
  • 15
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    • Non-syndromic, autosomal-recessive deafness
    • Petersen MB, Willems PJ (2006) Non-syndromic, autosomal-recessive deafness. Clin Genet 69:371-392.
    • (2006) Clin Genet , vol.69 , pp. 371-392
    • Petersen, M.B.1    Willems, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.