메뉴 건너뛰기




Volumn 63, Issue 6, 2003, Pages 431-444

The molecular genetics of Usher syndrome

Author keywords

Deafness; Retinitis pigmentosa; Usher syndrome; Vestibular dysfunction

Indexed keywords

CADHERIN; MYOSIN;

EID: 0043244878     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00109.x     Document Type: Review
Times cited : (144)

References (111)
  • 1
    • 0034730872 scopus 로고    scopus 로고
    • Changes in the aetiology of hearing impairment in deaf-blind pupils and deaf infant pupils at an institute for the deaf
    • Admiraal RJ, Huygen PL. Changes in the aetiology of hearing impairment in deaf-blind pupils and deaf infant pupils at an institute for the deaf. Int J Pediatr Otorhinolaryngol 2000: 55: 133-142.
    • (2000) Int. J. Pediatr. Otorhinolaryngol. , vol.55 , pp. 133-142
    • Admiraal, R.J.1    Huygen, P.L.2
  • 2
    • 0028999535 scopus 로고
    • Visual impairment in severe and profound sensorineural deafness
    • Armitage IM, Burke JP, Buffin JT. Visual impairment in severe and profound sensorineural deafness. Arch Dis Child 1995: 73: 53-56.
    • (1995) Arch. Dis. Child , vol.73 , pp. 53-56
    • Armitage, I.M.1    Burke, J.P.2    Buffin, J.T.3
  • 3
    • 0024217460 scopus 로고
    • Ocular abnormalities in deaf children a discussion of deafness and retinal pigment changes
    • Nicoll AM, House P. Ocular abnormalities in deaf children a discussion of deafness and retinal pigment changes. Aust N Z J Ophthalmol 1988: 16: 205-208.
    • (1988) Aust. N. Z. J. Ophthalmol. , vol.16 , pp. 205-208
    • Nicoll, A.M.1    House, P.2
  • 4
    • 0001645884 scopus 로고
    • Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut
    • VonGraefe A. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Archiv für Ophthalmologie 1858: 4: 250-253.
    • (1858) Archiv. für Ophthalmologie , vol.4 , pp. 250-253
    • VonGraefe, A.1
  • 5
    • 84977060845 scopus 로고
    • The hereditary syndrome of congenital deafness and retinitis pigmentosa
    • (Usher's syndrome)
    • Kloepfer HW, Laguaite JK. The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome). Laryngoscope 1966: 76: 850-862.
    • (1966) Laryngoscope , vol.76 , pp. 850-862
    • Kloepfer, H.W.1    Laguaite, J.K.2
  • 6
    • 0030922189 scopus 로고    scopus 로고
    • The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
    • Rosenberg T, Haim M, Hauch AM et al. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 1997: 51: 314-321.
    • (1997) Clin. Genet. , vol.51 , pp. 314-321
    • Rosenberg, T.1    Haim, M.2    Hauch, A.M.3
  • 7
    • 0020619770 scopus 로고
    • Usher syndrome: Definition and estimate of prevalence from two high-risk populations
    • Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983: 36: 595-603.
    • (1983) J. Chronic. Dis. , vol.36 , pp. 595-603
    • Boughman, J.A.1    Vernon, M.2    Shaver, K.A.3
  • 8
    • 0026658481 scopus 로고
    • Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset
    • Haim M. Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset. Acta Ophthalmol (Copenh) 1992: 70: 417-426.
    • (1992) Acta Ophthalmol. (Copenh) , vol.70 , pp. 417-426
    • Haim, M.1
  • 9
    • 0031014526 scopus 로고    scopus 로고
    • Usher syndrome in the city of Birmingham - Prevalence and clinical classification
    • Hope CI, Bundey S, Proops D et al. Usher syndrome in the city of Birmingham - prevalence and clinical classification. Br J Ophthalmol 1997: 81: 46-53.
    • (1997) Br. J. Ophthalmol. , vol.81 , pp. 46-53
    • Hope, C.I.1    Bundey, S.2    Proops, D.3
  • 11
    • 0036482801 scopus 로고    scopus 로고
    • Epidemiology of retinitis pigmentosa in Denmark
    • Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand 2002: 80 (Suppl. 233): 1-34.
    • (2002) Acta. Ophthalmol Scand. , vol.80 , Issue.SUPPL. 233 , pp. 1-34
    • Haim, M.1
  • 12
    • 0035828440 scopus 로고    scopus 로고
    • Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: Questionnaire based ascertainment study
    • Fortnum HM, Summerfield AQ, Marshall DH et al. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 2001: 323: 536-540.
    • (2001) BMJ , vol.323 , pp. 536-540
    • Fortnum, H.M.1    Summerfield, A.Q.2    Marshall, D.H.3
  • 13
    • 0036550034 scopus 로고    scopus 로고
    • Epidemiology of the UK population of hearing-impaired children, including characteristics of those with and without cochlear implants - Audiology, aetiology, comorbidity and affluence
    • Fortnum HM, Marshall DH, Summerfield AQ. Epidemiology of the UK population of hearing-impaired children, including characteristics of those with and without cochlear implants - audiology, aetiology, comorbidity and affluence. Int J Audiol 2002: 41: 170-179.
    • (2002) Int. J. Audiol. , vol.41 , pp. 170-179
    • Fortnum, H.M.1    Marshall, D.H.2    Summerfield, A.Q.3
  • 14
    • 0027180952 scopus 로고
    • Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
    • Marazita ML, Ploughman LM, Rawlings B et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993: 46: 486-491.
    • (1993) Am. J. Med. Genet. , vol.46 , pp. 486-491
    • Marazita, M.L.1    Ploughman, L.M.2    Rawlings, B.3
  • 15
    • 0028295151 scopus 로고
    • Clinical diagnosis of the Usher syndromes
    • Usher Syndrome Consortium
    • Smith RJ, Berlin CI, Hejtmancik JF et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994: 50: 32-38.
    • (1994) Am. J. Med. Genet. , vol.50 , pp. 32-38
    • Smith, R.J.1    Berlin, C.I.2    Hejtmancik, J.F.3
  • 16
    • 0036117719 scopus 로고    scopus 로고
    • Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?
    • Tsilou ET, Rubin BI, Caruso RC et al. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand 2002: 80: 196-201.
    • (2002) Acta Ophthalmol. Scand. , vol.80 , pp. 196-201
    • Tsilou, E.T.1    Rubin, B.I.2    Caruso, R.C.3
  • 17
  • 18
    • 0028836898 scopus 로고
    • Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
    • Sankila EM, Pakarinen L, Kaariainen H et al. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995: 4: 93-98.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 93-98
    • Sankila, E.M.1    Pakarinen, L.2    Kaariainen, H.3
  • 19
    • 0035166905 scopus 로고    scopus 로고
    • A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I
    • Otterstedde CR, Spandau U, Blankenagel A et al. A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I. Laryngoscope 2001: 111: 84-86.
    • (2001) Laryngoscope , vol.111 , pp. 84-86
    • Otterstedde, C.R.1    Spandau, U.2    Blankenagel, A.3
  • 20
    • 0025308736 scopus 로고
    • Localization of Usher syndrome type II to chromosome 1q
    • Kimberling WJ, Weston MD, Moller C et al. Localization of Usher syndrome type II to chromosome 1q. Genomics 1990: 7: 245-249.
    • (1990) Genomics , vol.7 , pp. 245-249
    • Kimberling, W.J.1    Weston, M.D.2    Moller, C.3
  • 21
    • 0025323589 scopus 로고
    • Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q
    • Lewis RA, Otterud B, Stauffer D et al. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 1990: 7: 250-256.
    • (1990) Genomics , vol.7 , pp. 250-256
    • Lewis, R.A.1    Otterud, B.2    Stauffer, D.3
  • 22
    • 0027058412 scopus 로고
    • Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
    • Kimberling WJ, Moller CG, Davenport S et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 1992: 14: 988-994.
    • (1992) Genomics , vol.14 , pp. 988-994
    • Kimberling, W.J.1    Moller, C.G.2    Davenport, S.3
  • 23
    • 0027058291 scopus 로고
    • Localization of two genes for Usher syndrome type I to chromosome 11
    • Smith RJ, Lee EC, Kimberling WJ et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 1992: 14: 995-1002.
    • (1992) Genomics , vol.14 , pp. 995-1002
    • Smith, R.J.1    Lee, E.C.2    Kimberling, W.J.3
  • 24
    • 0028226978 scopus 로고
    • Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
    • Keats BJ, Nouri N, Pelias MZ et al. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994: 54: 681-686.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 681-686
    • Keats, B.J.1    Nouri, N.2    Pelias, M.Z.3
  • 26
    • 0029798669 scopus 로고    scopus 로고
    • Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
    • Wayne S, Der Kaloustian VM, Schloss M et al. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet 1996: 5: 1689-1692.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1689-1692
    • Wayne, S.1    Der Kaloustian, V.M.2    Schloss, M.3
  • 27
    • 0000704779 scopus 로고    scopus 로고
    • Localization of the Usher syndrome type IF (Ush1F) to chromosome 10
    • (Abstract)
    • Wayne S, Lowry RB, McLeod DR et al. Localization of the Usher syndrome type IF (Ush1F) to chromosome 10. Am J Hum Genet 1997: 61: (Abstract) 1752.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1752
    • Wayne, S.1    Lowry, R.B.2    McLeod, D.R.3
  • 28
    • 0036556270 scopus 로고    scopus 로고
    • A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
    • Mustapha M, Chouery E, Torchard-Pagnez D et al. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet 2002: 110: 348-350.
    • (2002) Hum. Genet. , vol.110 , pp. 348-350
    • Mustapha, M.1    Chouery, E.2    Torchard-Pagnez, D.3
  • 29
    • 0032958299 scopus 로고    scopus 로고
    • A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
    • Hmani M, Ghorbel A, Boulila-Elgaied A et al. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet 1999: 7: 363-367.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 363-367
    • Hmani, M.1    Ghorbel, A.2    Boulila-Elgaied, A.3
  • 30
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil D, Blanchard S, Kaplan J et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995: 374: 60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 31
    • 0033822063 scopus 로고    scopus 로고
    • A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
    • Bitner-Glindzicz M, Lindley KJ, Rutland P et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000: 26: 56-60.
    • (2000) Nat. Genet. , vol.26 , pp. 56-60
    • Bitner-Glindzicz, M.1    Lindley, K.J.2    Rutland, P.3
  • 32
    • 0033816925 scopus 로고    scopus 로고
    • A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
    • Verpy E, Leibovici M, Zwaenepoel I et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000: 26: 51-55.
    • (2000) Nat. Genet. , vol.26 , pp. 51-55
    • Verpy, E.1    Leibovici, M.2    Zwaenepoel, I.3
  • 33
    • 0035158639 scopus 로고    scopus 로고
    • Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    • Bolz H, von Brederlow B, Ramirez A et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001: 27: 108-112.
    • (2001) Nat. Genet. , vol.27 , pp. 108-112
    • Bolz, H.1    von Brederlow, B.2    Ramirez, A.3
  • 34
    • 0035168168 scopus 로고    scopus 로고
    • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    • Bork JM, Peters LM, Riazuddin S et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2001: 68: 26-37.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3
  • 35
    • 0034968358 scopus 로고    scopus 로고
    • Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    • Ahmed ZM, Riazuddin S, Bernstein SL et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001: 69: 25-34.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 25-34
    • Ahmed, Z.M.1    Riazuddin, S.2    Bernstein, S.L.3
  • 36
    • 0035421436 scopus 로고    scopus 로고
    • Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    • Alagramam KN, Yuan H, Kuehn MH et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001: 10: 1709-1718.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1709-1718
    • Alagramam, K.N.1    Yuan, H.2    Kuehn, M.H.3
  • 37
    • 0037341463 scopus 로고    scopus 로고
    • Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    • Weil D, El-Amraoui A, Masmoudi S et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003: 12: 463-471.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 463-471
    • Weil, D.1    El-Amraoui, A.2    Masmoudi, S.3
  • 38
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    • Eudy JD, Weston MD, Yao S et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998: 280: 1753-1757.
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3
  • 39
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu T, Hamalainen R, Yuan B et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001: 69: 673-684.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 673-684
    • Joensuu, T.1    Hamalainen, R.2    Yuan, B.3
  • 40
    • 0036021030 scopus 로고    scopus 로고
    • USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    • Adato A, Vreugde S, Joensuu T et al. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 2002: 10: 339-350.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 339-350
    • Adato, A.1    Vreugde, S.2    Joensuu, T.3
  • 41
    • 0036723958 scopus 로고    scopus 로고
    • Usher syndrome type III revised genomic structure of the USH3 gene and identification of novel mutations
    • Fields RR, Zhou G, Huang D et al. Usher syndrome type III. revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 2002: 71: 607-617.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 607-617
    • Fields, R.R.1    Zhou, G.2    Huang, D.3
  • 42
    • 0041689645 scopus 로고    scopus 로고
    • Hereditary Hearing Loss Homepage
    • Hereditary Hearing Loss Homepage. http://dnalab-www.uia.ac.be/dnalab/hhh/.
  • 43
    • 0030054738 scopus 로고    scopus 로고
    • Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22
    • Chaib H, Place C, Salem N et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 1996: 5: 1061-1064.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1061-1064
    • Chaib, H.1    Place, C.2    Salem, N.3
  • 44
    • 0032104235 scopus 로고    scopus 로고
    • A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    • Jain PK, Lalwani AK, Li XC et al. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 1998: 50: 290-292.
    • (1998) Genomics , vol.50 , pp. 290-292
    • Jain, P.K.1    Lalwani, A.K.2    Li, X.C.3
  • 45
    • 0028862795 scopus 로고
    • An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6
    • Fukushima K, Ramesh A, Srisailapathy CR et al. An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res 1995: 5: 305-308.
    • (1995) Genome Res. , vol.5 , pp. 305-308
    • Fukushima, K.1    Ramesh, A.2    Srisailapathy, C.R.3
  • 46
    • 0033927821 scopus 로고    scopus 로고
    • Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss
    • Rivolta C, Sweklo EA, Berson EL et al. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000: 66: 1975-1978.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1975-1978
    • Rivolta, C.1    Sweklo, E.A.2    Berson, E.L.3
  • 47
    • 18444366182 scopus 로고    scopus 로고
    • CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    • Astuto LM, Bork JM, Weston MD et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet 2002: 71: 262-275.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3
  • 48
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
    • Liu XZ, Walsh J, Tamagawa Y et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997: 17: 268-269.
    • (1997) Nat. Genet. , vol.17 , pp. 268-269
    • Liu, X.Z.1    Walsh, J.2    Tamagawa, Y.3
  • 49
    • 0032216552 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
    • Liu XZ, Hope C, Walsh J et al. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 1998: 63: 909-912.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 909-912
    • Liu, X.Z.1    Hope, C.2    Walsh, J.3
  • 50
    • 0033646476 scopus 로고    scopus 로고
    • Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
    • Astuto LM, Weston MD, Carney CA et al. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet 2000: 67: 1569-1574.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1569-1574
    • Astuto, L.M.1    Weston, M.D.2    Carney, C.A.3
  • 51
    • 0028306509 scopus 로고
    • A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
    • Guilford P, Ayadi H, Blanchard S et al. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 1994: 3: 989-993.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 989-993
    • Guilford, P.1    Ayadi, H.2    Blanchard, S.3
  • 52
    • 0035877147 scopus 로고    scopus 로고
    • From DFNB2 to Usher syndrome: Variable expressivity of the same disease
    • Zina ZB, Masmoudi S, Ayadi H et al. From DFNB2 to Usher syndrome: variable expressivity of the same disease. Am J Med Genet 2001: 101: 181-183.
    • (2001) Am. J. Med. Genet. , vol.101 , pp. 181-183
    • Zina, Z.B.1    Masmoudi, S.2    Ayadi, H.3
  • 54
    • 0029898545 scopus 로고    scopus 로고
    • A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
    • Tamagawa Y, Kitamura K, Ishida T et al. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet 1996: 5: 849-852.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 849-852
    • Tamagawa, Y.1    Kitamura, K.2    Ishida, T.3
  • 56
    • 0028860302 scopus 로고
    • A type VII myosin encoded by the mouse deafness gene shaker-1
    • Gibson F, Walsh J, Mburu P et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995: 374: 62-64.
    • (1995) Nature , vol.374 , pp. 62-64
    • Gibson, F.1    Walsh, J.2    Mburu, P.3
  • 57
    • 0030960855 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
    • Liu XZ, Walsh J, Mburu P et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997: 16: 188-190.
    • (1997) Nat. Genet. , vol.16 , pp. 188-190
    • Liu, X.Z.1    Walsh, J.2    Mburu, P.3
  • 58
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • Weil D, Kussel P, Blanchard S et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997: 16: 191-193.
    • (1997) Nat. Genet. , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3
  • 60
    • 19244362118 scopus 로고    scopus 로고
    • Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
    • Weston MD, Kelley PM, Overbeck LD et al. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 1996: 59: 1074-1083.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1074-1083
    • Weston, M.D.1    Kelley, P.M.2    Overbeck, L.D.3
  • 61
    • 0032559349 scopus 로고    scopus 로고
    • Unconventional myosins in cell movement, membrane traffic, and signal transduction
    • Mermall V, Post PL, Mooseker MS. Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 1998: 279: 527-533.
    • (1998) Science , vol.279 , pp. 527-533
    • Mermall, V.1    Post, P.L.2    Mooseker, M.S.3
  • 62
    • 0030869710 scopus 로고    scopus 로고
    • Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
    • Adato A, Weil D, Kalinski H et al. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 1997: 61: 813-821.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 813-821
    • Adato, A.1    Weil, D.2    Kalinski, H.3
  • 63
    • 0030587490 scopus 로고    scopus 로고
    • Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B
    • Chen ZY, Hasson T, Kelley PM et al. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics 1996: 36: 440-448.
    • (1996) Genomics , vol.36 , pp. 440-448
    • Chen, Z.Y.1    Hasson, T.2    Kelley, P.M.3
  • 64
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2001: 2: 271-297.
    • (2001) Annu. Rev. Genomics. Hum. Genet. , vol.2 , pp. 271-297
    • Petit, C.1
  • 65
    • 0034351423 scopus 로고    scopus 로고
    • The roles of unconventional myosins in hearing and deafness
    • Libby RT, Steel KP. The roles of unconventional myosins in hearing and deafness. Essays Biochem 2000: 35: 159-174.
    • (2000) Essays Biochem. , vol.35 , pp. 159-174
    • Libby, R.T.1    Steel, K.P.2
  • 66
    • 0033553154 scopus 로고    scopus 로고
    • Isoforms of the human PDZ-73 protein exhibit differential tissue expression
    • 1445
    • Scanlan MJ, Williamson B, Jungbluth A et al. Isoforms of the human PDZ-73 protein exhibit differential tissue expression. Biochim Biophys Acta 1999: 1445: 39-52.
    • (1999) Biochim. Biophys. Acta , pp. 39-52
    • Scanlan, M.J.1    Williamson, B.2    Jungbluth, A.3
  • 67
    • 0036626684 scopus 로고    scopus 로고
    • Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USH1C
    • Ahmed ZM, Smith TN, Riazuddin S et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USH1C. Hum Genet 2002: 110: 527-531.
    • (2002) Hum. Genet. , vol.110 , pp. 527-531
    • Ahmed, Z.M.1    Smith, T.N.2    Riazuddin, S.3
  • 68
    • 0036664454 scopus 로고    scopus 로고
    • Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
    • Ouyang XM, Xia XJ, Verpy E et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet 2002: 111: 26-30.
    • (2002) Hum. Genet. , vol.111 , pp. 26-30
    • Ouyang, X.M.1    Xia, X.J.2    Verpy, E.3
  • 69
    • 12244277402 scopus 로고    scopus 로고
    • Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    • Boeda B, El-Amraoui A, Bahloul A et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 2002: 21: 6689-6699.
    • (2002) EMBO J. , vol.21 , pp. 6689-6699
    • Boeda, B.1    El-Amraoui, A.2    Bahloul, A.3
  • 70
    • 0034916230 scopus 로고    scopus 로고
    • PDZ domains and the organization of supramolecular complexes
    • Sheng M, Sala C. PDZ domains and the organization of supramolecular complexes. Annu Rev Neurosci 2001: 24: 1-29.
    • (2001) Annu. Rev. Neurosci. , vol.24 , pp. 1-29
    • Sheng, M.1    Sala, C.2
  • 71
    • 0033180348 scopus 로고    scopus 로고
    • Protein modules as organizers of membrane structure
    • Fanning AS, Anderson JM. Protein modules as organizers of membrane structure. Curr Opin Cell Biol 1999: 11: 432-439.
    • (1999) Curr. Opin. Cell. Biol. , vol.11 , pp. 432-439
    • Fanning, A.S.1    Anderson, J.M.2
  • 72
    • 0033560065 scopus 로고    scopus 로고
    • PDZ domains: Fundamental building blocks in the organization of protein complexes at the plasma membrane
    • Fanning AS, Anderson JM. PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane. J Clin Invest 1999: 103: 767-772.
    • (1999) J. Clin. Invest. , vol.103 , pp. 767-772
    • Fanning, A.S.1    Anderson, J.M.2
  • 73
    • 0037069346 scopus 로고    scopus 로고
    • The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
    • Siemens J, Kazmierczak P, Reynolds A et al. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci USA 2002: 99: 14946-14951.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 14946-14951
    • Siemens, J.1    Kazmierczak, P.2    Reynolds, A.3
  • 74
    • 0035168151 scopus 로고    scopus 로고
    • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
    • Di Palma F, Holme RH, Bryda EC et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 2001: 27: 103-107.
    • (2001) Nat. Genet. , vol.27 , pp. 103-107
    • Di Palma, F.1    Holme, R.H.2    Bryda, E.C.3
  • 75
    • 0031469713 scopus 로고    scopus 로고
    • A major gene affecting age-related hearing loss in C57BL/6J mice
    • Johnson KR, Erway LC, Cook SA et al. A major gene affecting age-related hearing loss in C57BL/6J mice. Hear Res 1997: 114: 83-92.
    • (1997) Hear Res. , vol.114 , pp. 83-92
    • Johnson, K.R.1    Erway, L.C.2    Cook, S.A.3
  • 76
    • 0031572317 scopus 로고    scopus 로고
    • mdfw: A deafness susceptibility locus that interacts with deaf waddler (dfw)
    • Noben-Trauth K, Zheng QY, Johnson KR et al. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 1997: 44: 266-272.
    • (1997) Genomics , vol.44 , pp. 266-272
    • Noben-Trauth, K.1    Zheng, Q.Y.2    Johnson, K.R.3
  • 77
    • 0035338619 scopus 로고    scopus 로고
    • High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v)
    • Bryda EC, Kim HJ, Legare ME et al. High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v). Genomics 2001: 73: 338-342.
    • (2001) Genomics , vol.73 , pp. 338-342
    • Bryda, E.C.1    Kim, H.J.2    Legare, M.E.3
  • 78
    • 0037123593 scopus 로고    scopus 로고
    • C-cadherin ectodomain structure and implications for cell adhesion mechanisms
    • Boggon TJ, Murray J, Chappuis-Flament S et al. C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 2002: 296: 1308-1313.
    • (2002) Science , vol.296 , pp. 1308-1313
    • Boggon, T.J.1    Murray, J.2    Chappuis-Flament, S.3
  • 79
    • 0035159856 scopus 로고    scopus 로고
    • The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
    • Alagramam KN, Murcia CL, Kwon HY et al. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 2001: 27: 99-102.
    • (2001) Nat. Genet. , vol.27 , pp. 99-102
    • Alagramam, K.N.1    Murcia, C.L.2    Kwon, H.Y.3
  • 80
    • 0034955437 scopus 로고    scopus 로고
    • Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo
    • Murcia CL, Woychik RP. Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo. Mech Dev 2001: 105: 163-166.
    • (2001) Mech. Dev. , vol.105 , pp. 163-166
    • Murcia, C.L.1    Woychik, R.P.2
  • 81
    • 0034751161 scopus 로고    scopus 로고
    • Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice
    • Raphael Y, Kobayashi KN, Dootz GA et al. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear Res 2001: 151: 237-249.
    • (2001) Hear Res. , vol.151 , pp. 237-249
    • Raphael, Y.1    Kobayashi, K.N.2    Dootz, G.A.3
  • 82
    • 0037337023 scopus 로고    scopus 로고
    • Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
    • Kikkawa Y, Shitara H, Wakana S et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003: 12: 453-461.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 453-461
    • Kikkawa, Y.1    Shitara, H.2    Wakana, S.3
  • 83
    • 0030201074 scopus 로고    scopus 로고
    • The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41
    • Sumegi J, Wang JY, Zhen DK et al. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. Genomics 1996: 35: 79-86.
    • (1996) Genomics , vol.35 , pp. 79-86
    • Sumegi, J.1    Wang, J.Y.2    Zhen, D.K.3
  • 84
    • 0028795018 scopus 로고
    • Gene mapping of Usher syndrome type IIa: Localization of the gene to a 2.1-cM segment on chromosome 1q41
    • Kimberling WJ, Weston MD, Moller C et al. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Am J Hum Genet 1995: 56: 216-223.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 216-223
    • Kimberling, W.J.1    Weston, M.D.2    Moller, C.3
  • 85
    • 0033940001 scopus 로고    scopus 로고
    • Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
    • Weston MD, Eudy JD, Fujita S et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000: 66: 1199-1210.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1199-1210
    • Weston, M.D.1    Eudy, J.D.2    Fujita, S.3
  • 86
    • 0036156556 scopus 로고    scopus 로고
    • Localization and expression of usherin: A novel basement membrane protein defective in people with Usher's syndrome type IIa
    • Bhattacharya G, Miller C, Kimberling WJ et al. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res 2002: 163: 1-11.
    • (2002) Hear Res. , vol.163 , pp. 1-11
    • Bhattacharya, G.1    Miller, C.2    Kimberling, W.J.3
  • 87
    • 0034973570 scopus 로고    scopus 로고
    • A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
    • Dreyer B, Tranebjaerg L, Brox V et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 2001: 69: 228-234.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 228-234
    • Dreyer, B.1    Tranebjaerg, L.2    Brox, V.3
  • 88
    • 0033358594 scopus 로고    scopus 로고
    • A mutation (2314delG) in the Usher syndrome type IIA gene: High prevalence and phenotypic variation
    • Liu XZ, Hope C, Liang CY et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999: 64: 1221-1225.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1221-1225
    • Liu, X.Z.1    Hope, C.2    Liang, C.Y.3
  • 89
    • 0030589629 scopus 로고    scopus 로고
    • Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region
    • Joensuu T, Blanco G, Pakarinen L et al. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 1996: 38: 255-263.
    • (1996) Genomics , vol.38 , pp. 255-263
    • Joensuu, T.1    Blanco, G.2    Pakarinen, L.3
  • 90
    • 0342615016 scopus 로고    scopus 로고
    • A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q
    • Joensuu T, Hamalainen R, Lehesjoki AE et al. A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Genomics 2000: 63: 409-416.
    • (2000) Genomics , vol.63 , pp. 409-416
    • Joensuu, T.1    Hamalainen, R.2    Lehesjoki, A.E.3
  • 91
    • 0033365218 scopus 로고    scopus 로고
    • Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance
    • Adato A, Kalinski H, Weil D et al. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet 1999: 65: 261-265.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 261-265
    • Adato, A.1    Kalinski, H.2    Weil, D.3
  • 92
    • 0032515681 scopus 로고    scopus 로고
    • Investigacion genetica sobre el sindrome de Usher en Espana
    • Espinos C, Millan JM. Investigacion genetica sobre el sindrome de Usher en Espana. [Genetic research on Usher's syndrome in Spain]. Med Clin (Barc) 1998: 110: 340-341.
    • (1998) Med. Clin. (Barc) , vol.110 , pp. 340-341
    • Espinos, C.1    Millan, J.M.2
  • 93
    • 0031857009 scopus 로고    scopus 로고
    • Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family
    • Gasparini P, De Fazio A, Croce AI et al. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. J Med Genet 1998: 35: 666-667.
    • (1998) J. Med. Genet. , vol.35 , pp. 666-667
    • Gasparini, P.1    De Fazio, A.2    Croce, A.I.3
  • 94
    • 0042190337 scopus 로고    scopus 로고
    • Localization and developmental expression of the protein encoded for by the Usher syndrome III gene
    • (abstract)
    • Fields RR, Kimberling WJ, Cosgrove DE. Localization and developmental expression of the protein encoded for by the Usher syndrome III gene. Assoc Res Otolaryngol 2003: (abstract) 1047, http://www.aro.org/.
    • (2003) Assoc. Res. Otolaryngol. , pp. 1047
    • Fields, R.R.1    Kimberling, W.J.2    Cosgrove, D.E.3
  • 95
    • 0027058632 scopus 로고
    • A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
    • Kaplan J, Gerber S, Bonneau D et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992: 14: 979-987.
    • (1992) Genomics , vol.14 , pp. 979-987
    • Kaplan, J.1    Gerber, S.2    Bonneau, D.3
  • 96
    • 0031032971 scopus 로고    scopus 로고
    • A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
    • Chaib H, Kaplan J, Gerber S et al. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997: 6: 27-31.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 27-31
    • Chaib, H.1    Kaplan, J.2    Gerber, S.3
  • 97
    • 0030805901 scopus 로고    scopus 로고
    • Identification of a new mutation of the myosin VII head region in Usher syndrome type 1
    • Liu XZ, Newton VE, Steel KP et al. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum Mutat 1997: 10: 168-170.
    • (1997) Hum. Mutat. , vol.10 , pp. 168-170
    • Liu, X.Z.1    Newton, V.E.2    Steel, K.P.3
  • 98
    • 0032912744 scopus 로고    scopus 로고
    • Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I confirmation of genetic heterogeneity
    • Janecke AR, Meins M, Sadeghi M et al. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I. confirmation of genetic heterogeneity. Hum Mutat 1999: 13: 133-140.
    • (1999) Hum. Mutat. , vol.13 , pp. 133-140
    • Janecke, A.R.1    Meins, M.2    Sadeghi, M.3
  • 99
    • 0033825065 scopus 로고    scopus 로고
    • Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
    • Bharadwaj AK, Kasztejna JP, Huq S et al. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res 2000: 71: 173-181.
    • (2000) Exp. Eye Res. , vol.71 , pp. 173-181
    • Bharadwaj, A.K.1    Kasztejna, J.P.2    Huq, S.3
  • 100
    • 0042691482 scopus 로고    scopus 로고
    • New mutations in myosin VIIa gene in the Portuguese population
    • (abstract)
    • Mena A, Camara J, Vieira H et al. New mutations in myosin VIIa gene in the Portuguese population. Am J Hum Genet 2000: 67 (4, Suppl.): (abstract) 2263.
    • (2000) Am. J. Hum. Genet. , vol.67 , Issue.4 SUPPL. , pp. 2263
    • Mena, A.1    Camara, J.2    Vieira, H.3
  • 101
    • 0002624845 scopus 로고    scopus 로고
    • Spectrum of myosin VIIA mutations causing Usher syndrome type 1b
    • (abstract)
    • Weston MD, Carney CA, Rivedal SA et al. Spectrum of myosin VIIA mutations causing Usher syndrome type 1b. Assoc Res Otolaryngol 1998: (abstract) 181, http://www.aro.org/.
    • (1998) Assoc. Res. Otolaryngol. , pp. 181
    • Weston, M.D.1    Carney, C.A.2    Rivedal, S.A.3
  • 102
    • 0346210139 scopus 로고    scopus 로고
    • Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
    • Levy G, Levi-Acobas F, Blanchard S et al. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997: 6: 111-116.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 111-116
    • Levy, G.1    Levi-Acobas, F.2    Blanchard, S.3
  • 103
    • 0033584286 scopus 로고    scopus 로고
    • Identification of three novel mutations in the MYO7A gene
    • Cuevas JM, Espin SC, Millan JM et al. Identification of three novel mutations in the MYO7A gene. Hum Mutat 1999: 14: 181.
    • (1999) Hum. Mutat. , vol.14 , pp. 181
    • Cuevas, J.M.1    Espin, S.C.2    Millan, J.M.3
  • 104
    • 0035175198 scopus 로고    scopus 로고
    • Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
    • Zwaenepoel I, Verpy E, Blanchard S et al. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. Hum Mutat 2001: 17: 34-41.
    • (2001) Hum. Mutat. , vol.17 , pp. 34-41
    • Zwaenepoel, I.1    Verpy, E.2    Blanchard, S.3
  • 105
    • 0037317439 scopus 로고    scopus 로고
    • Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
    • de Brouwer AP, Pennings RJ, Roeters M et al. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet 2003: 112: 156-163.
    • (2003) Hum. Genet. , vol.112 , pp. 156-163
    • de Brouwer, A.P.1    Pennings, R.J.2    Roeters, M.3
  • 106
    • 0036190161 scopus 로고    scopus 로고
    • Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D
    • von Brederlow B, Bolz H, Janecke A et al. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Hum Mutat 2002: 19: 268-273.
    • (2002) Hum. Mutat. , vol.19 , pp. 268-273
    • von Brederlow, B.1    Bolz, H.2    Janecke, A.3
  • 107
    • 0033937587 scopus 로고    scopus 로고
    • Identification of novel USH2A mutations: Implications for the structure of USH2A protein
    • Dreyer B, Tranebjaerg L, Rosenberg T et al. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet 2000: 8: 500-506.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 500-506
    • Dreyer, B.1    Tranebjaerg, L.2    Rosenberg, T.3
  • 108
    • 0034164449 scopus 로고    scopus 로고
    • Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families
    • Adato A, Weston MD, Berry A et al. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat 2000: 15: 388.
    • (2000) Hum. Mutat. , vol.15 , pp. 388
    • Adato, A.1    Weston, M.D.2    Berry, A.3
  • 109
    • 0034740617 scopus 로고    scopus 로고
    • Spectrum of mutations in USU2A in British patients with Usher syndrome type II
    • Leroy BP, Aragon-Martin JA, Weston MD et al. Spectrum of mutations in USU2A in British patients with Usher syndrome type II. Exp Eye Res 2001: 72: 503-509.
    • (2001) Exp. Eye Res. , vol.72 , pp. 503-509
    • Leroy, B.P.1    Aragon-Martin, J.A.2    Weston, M.D.3
  • 110
    • 1642586741 scopus 로고    scopus 로고
    • Genetic heterogeneity of Usher syndrome type II localization to chromosome 5q
    • Pieke-Dahl S, Moller CG, Kelley PM et al. Genetic heterogeneity of Usher syndrome type II. localization to chromosome 5q. J Med Genet 2000: 37: 256-262.
    • (2000) J. Med. Genet. , vol.37 , pp. 256-262
    • Pieke-Dahl, S.1    Moller, C.G.2    Kelley, P.M.3
  • 111
    • 0242711914 scopus 로고    scopus 로고
    • A prevalent mutation of PCDH15 among Ashkenazi, Jews with the type 1 Usher syndrome
    • Ben-Yosef T, Ness SL, Madeo AC et al. A prevalent mutation of PCDH15 among Ashkenazi, Jews with the type 1 Usher syndrome. N Engl J Med 2003: 348: 1664-1670.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 1664-1670
    • Ben-Yosef, T.1    Ness, S.L.2    Madeo, A.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.