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Volumn 38, Issue 3, 1997, Pages 237-245

Non-syndromic dominant sensorineural hearing loss: From a few phenotypes to many genotypes

Author keywords

Autosomal dominant; Autosomal recessive; Gene linkage; Genetic deafness; Hearing loss; Mitochondrial deafness; Sensorineural

Indexed keywords

CHILD; DOMINANT INHERITANCE; GENETIC LINKAGE; GENOTYPE; HUMAN; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0031550309     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(96)01444-9     Document Type: Article
Times cited : (4)

References (47)
  • 3
    • 0028901364 scopus 로고
    • Mitochondrial genetics and deafness
    • [3] Reardon, W., Harding, A.E. (1995) Mitochondrial genetics and deafness. J. Audiol. Med. 4, 40-51.
    • (1995) J. Audiol. Med. , vol.4 , pp. 40-51
    • Reardon, W.1    Harding, A.E.2
  • 4
    • 0028318758 scopus 로고
    • Non-Mendelian mitochondrial inheritance as a cause of progressive sensorineural hearing loss
    • [4] Gold, M. and Rapin, I. (1994) Non-Mendelian mitochondrial inheritance as a cause of progressive sensorineural hearing loss. Int. J. Fed. ORL. 30, 91-104.
    • (1994) Int. J. Fed. ORL. , vol.30 , pp. 91-104
    • Gold, M.1    Rapin, I.2
  • 10
    • 0028102480 scopus 로고
    • Bilateral sensorineural hearing loss in members of a maternal linkage with a mitochondrial point mutation
    • [10] Vernham, G.A., Reid, F.M., Rundle, P.A. and Jacobs, H.T. (1994) Bilateral sensorineural hearing loss in members of a maternal linkage with a mitochondrial point mutation. Clin. Otolaryngol. 19, 314-319.
    • (1994) Clin. Otolaryngol. , vol.19 , pp. 314-319
    • Vernham, G.A.1    Reid, F.M.2    Rundle, P.A.3    Jacobs, H.T.4
  • 11
    • 0028094531 scopus 로고
    • Complete mt DNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • [11] Reid, F.M., Vernham, G.A. and Hacobs, H.T. (1994) Complete mt DNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum. Mol. Genet. 3, 1435-1436.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Hacobs, H.T.3
  • 14
    • 0021143782 scopus 로고
    • Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • [14] Pavlakis, S.G., Phillips, P.C., Dimauro, S., Devito, D.C. and Rowland, L.P. (1984) Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann. Neurol. 16, 481-488.
    • (1984) Ann. Neurol. , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Dimauro, S.3    Devito, D.C.4    Rowland, L.P.5
  • 15
    • 0026004614 scopus 로고
    • A new mutation with mitochondreal myopathy, encephalopathy, lactic acidosis and stroke like episodes
    • [15] Goto, Y., Nonaka, I. and Horai, S. (1991) A new mutation with mitochondreal myopathy, encephalopathy, lactic acidosis and stroke like episodes. Biochim. Biophys. Acta 1097, 238-240.
    • (1991) Biochim. Biophys. Acta , vol.1097 , pp. 238-240
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 19
    • 0027288377 scopus 로고
    • (8344) mutation: Clinical phenotype and relation to proportion of mutant mitochondreal DNA
    • (8344) mutation: clinical phenotype and relation to proportion of mutant mitochondreal DNA. Brain 116, 617-632.
    • (1993) Brain , vol.116 , pp. 617-632
    • Hammans, S.1    Sweeney, M.2    Brockington, M.3
  • 20
    • 0026688649 scopus 로고
    • lys gene associated with myoclonic epilepsy and ragged red fibers (MERRF)
    • lys gene associated with myoclonic epilepsy and ragged red fibers (MERRF). Am J. Hum. Gen. 51, 1213-1217.
    • (1992) Am J. Hum. Gen. , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.2    Shanske, S.3
  • 22
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondreal DNA starting at the D-loop region
    • [22] Zeviani, M., Bresolin, N. and Gellera C. (1989) An autosomal dominant disorder with multiple deletions of mitochondreal DNA starting at the D-loop region. Nature 339, 309-311.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Bresolin, N.2    Gellera, C.3
  • 23
    • 0024499802 scopus 로고
    • Duplications of mitochondreal DNA in mitochondreal myopathy
    • [23] Poulton, J., Deadman, M. and Gardner, R. (1989) Duplications of mitochondreal DNA in mitochondreal myopathy. Lancet i, 236-240.
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.2    Gardner, R.3
  • 26
    • 0028555358 scopus 로고
    • A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
    • [26] Chaib, H., Lina-Granade, G., Guilford, P., Paluchu, H., Levilliers, J., Morgon, A. and Petit, C. (1994) A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Mol. Genet. 3, 2219-2222.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2219-2222
    • Chaib, H.1    Lina-Granade, G.2    Guilford, P.3    Paluchu, H.4    Levilliers, J.5    Morgon, A.6    Petit, C.7
  • 34
    • 0028249690 scopus 로고
    • A non-syndromic form of neurosensory, recessive deafness maps to the pericentrometric region of chromosome 13q
    • [34] Guilford, P., Arab, S.B., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A. and Petit, C. (1994a) A non-syndromic form of neurosensory, recessive deafness maps to the pericentrometric region of chromosome 13q. Nat. Genet. 6, 24-28.
    • (1994) Nat. Genet. , vol.6 , pp. 24-28
    • Guilford, P.1    Arab, S.B.2    Blanchard, S.3    Levilliers, J.4    Weissenbach, J.5    Belkahia, A.6    Petit, C.7
  • 35
    • 0028306509 scopus 로고
    • A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
    • [35] Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M. and Petit, C. (1994b) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989-993.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 989-993
    • Guilford, P.1    Ayadi, H.2    Blanchard, S.3    Chaib, H.4    Le Paslier, D.5    Weissenbach, J.6    Drira, M.7    Petit, C.8
  • 37
    • 0029145428 scopus 로고
    • Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
    • [37] Baldwin, C.T., Farrer, L.A., Weiss, S., De Stefano, A.L., Adair, R., Franklyn, B., Kidd, K.K., Korostishevsky, M. and Bonn-Tamir, B. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet. 4, 1637-1642.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1637-1642
    • Baldwin, C.T.1    Farrer, L.A.2    Weiss, S.3    De Stefano, A.L.4    Adair, R.5    Franklyn, B.6    Kidd, K.K.7    Korostishevsky, M.8    Bonn-Tamir, B.9
  • 41
    • 0030070163 scopus 로고    scopus 로고
    • Autosomal recessive non syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
    • [41] Veske, A., Oehlmann, R., Younus, F., Mohyuddin, A., Möller-Meyhsok, B., Quasim Mehdi, S. and Gal, A. (1996) Autosomal recessive non syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 5, 165-168.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 165-168
    • Veske, A.1    Oehlmann, R.2    Younus, F.3    Mohyuddin, A.4    Möller-Meyhsok, B.5    Quasim Mehdi, S.6    Gal, A.7
  • 43
    • 0029898545 scopus 로고    scopus 로고
    • A gene for a dominant form of non syndromic deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
    • [43] Tamagawa, Y., Kitamura, K., Ishida, T., Tanaka, H., Tsuji, S. and Nishizawa, M. (1996) A gene for a dominant form of non syndromic deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum. Mol. Genet. 5, 849-852.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 849-852
    • Tamagawa, Y.1    Kitamura, K.2    Ishida, T.3    Tanaka, H.4    Tsuji, S.5    Nishizawa, M.6
  • 45
    • 0029811339 scopus 로고    scopus 로고
    • An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
    • [45] Scott, D.A., Carmi, R., Elbedour, K., Yosefsberg, S., Stone, E.M. and Sheffield, V.C. (1996) An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59, 385-391.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 385-391
    • Scott, D.A.1    Carmi, R.2    Elbedour, K.3    Yosefsberg, S.4    Stone, E.M.5    Sheffield, V.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.