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Volumn 45, Issue 2, 2004, Pages 249-254

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

Author keywords

Connexin 31; Gap junctions; GJB3; Hearing impairment; Mutations

Indexed keywords

CONNEXIN 31; GAP JUNCTION PROTEIN; GENOMIC DNA; PROTEIN; UNCLASSIFIED DRUG; GJB3 PROTEIN, HUMAN;

EID: 2942735102     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (17)
  • 1
    • 0029974655 scopus 로고    scopus 로고
    • Connections with connexins: The molecular basis of direct intercellular signaling
    • BRUZZONE R., WHITE T.W., PAUL D.L. (1996). Connections with connexins: the molecular basis of direct intercellular signaling. Eur. J. Biochem. 238: 1-27.
    • (1996) Eur. J. Biochem. , vol.238 , pp. 1-27
    • Bruzzone, R.1    White, T.W.2    Paul, D.L.3
  • 2
    • 0001639812 scopus 로고
    • (R.J. Gorlin, H.V. Toriello, M.M. Cohen, eds.). Hereditary Hearing Loss and its Syndromes. Oxford: Oxford University Press
    • COHEN M.M., GORLIN R.J. (1995). In: Epidemiology, etiology and genetic patterns (R.J. Gorlin, H.V. Toriello, M.M. Cohen, eds.). Hereditary Hearing Loss and its Syndromes. Oxford: Oxford University Press: 9-21.
    • (1995) Epidemiology, Etiology and Genetic Patterns , pp. 9-21
    • Cohen, M.M.1    Gorlin, R.J.2
  • 6
    • 0034022965 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • KELSELL D.P., WILGOSS A.L., RICHARD G., STEVENS H.P., MUNRO C.S., LEIGH I.M. (2000). Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur. J. Hum. Genet. 8: 141-144.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 141-144
    • Kelsell, D.P.1    Wilgoss, A.L.2    Richard, G.3    Stevens, H.P.4    Munro, C.S.5    Leigh, I.M.6
  • 9
    • 84859541472 scopus 로고    scopus 로고
    • R32W variant in connexin 31: Mutation or polymorphism for deafness and skin disease?
    • LÓPEZ-BRIGAZ N., RABIONET R., ARBONÉS M.L., ESTIVILL X. (2001). R32W variant in connexin 31: mutation or polymorphism for deafness and skin disease? Eur. J. Hum. Genet. 9: 70.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 70
    • López-Brigaz, N.1    Rabionet, R.2    Arbonés, M.L.3    Estivill, X.4
  • 10
    • 0043133727 scopus 로고    scopus 로고
    • Mutation analysis of connexin 31 (GJB3) in sporadic non-syndromic hearing impairment
    • MHATRE A.N., WELD E., LALWANI A.K. (2003). Mutation analysis of connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin. Genet. 63: 154-159.
    • (2003) Clin. Genet. , vol.63 , pp. 154-159
    • Mhatre, A.N.1    Weld, E.2    Lalwani, A.K.3
  • 11
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • MORTON N.E. (1991). Genetic epidemiology of hearing impairment. Ann. New York Acad. Sci. 630: 16-31.
    • (1991) Ann. New York Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 12
    • 33750707289 scopus 로고    scopus 로고
    • Genetic evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel
    • ACMG (2002). Genetic evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel. Genet. Med. 4: 162-171.
    • (2002) Genet. Med. , vol.4 , pp. 162-171
  • 13
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junctions genes encoding beta connexins
    • RABIONET R., GASPARINI P., ESTIVILL X. (2000). Molecular genetics of hearing impairment due to mutations in gap junctions genes encoding beta connexins. Hum. Mutat. 16: 190-202.
    • (2000) Hum. Mutat. , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 15
    • 0001159216 scopus 로고
    • A surdez evitável: Predominância de fatores ambientais na etiologia da surdez neurossensorial profunda
    • SIMÕES A.M., MACIEL-GUERRA A.T. (1992). A surdez evitável: predominância de fatores ambientais na etiologia da surdez neurossensorial profunda. J. Pediatria 68: 254-257.
    • (1992) J. Pediatria , vol.68 , pp. 254-257
    • Simões, A.M.1    Maciel-Guerra, A.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.