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Volumn 51, Issue 3, 2010, Pages 1311-1317

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; FAMILY STUDY; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GPR98 GENE; HETEROZYGOSITY; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; MYO7A GENE; PCDH15 GENE; POPULATION RESEARCH; PRIORITY JOURNAL; USH1C GENE; USH1G GENE; USH2A GENE; USH3A GENE; USHER SYNDROME; ALLELE; DNA MICROARRAY; GENE EXPRESSION PROFILING; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SPAIN;

EID: 77949883035     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4085     Document Type: Article
Times cited : (52)

References (53)
  • 1
    • 0031014526 scopus 로고    scopus 로고
    • Usher syndrome in the city of Birmingham: Prevalence and clinical classification
    • Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham: prevalence and clinical classification. Br J Ophthalmol. 1997;81(1):46-53.
    • (1997) Br J Ophthalmol. , vol.81 , Issue.1 , pp. 46-53
    • Hope, C.I.1    Bundey, S.2    Proops, D.3    Fielder, A.R.4
  • 2
    • 0030922189 scopus 로고    scopus 로고
    • The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
    • Rosenberg T, Haim M, Hauch AM, Parving A. 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    Parving, A.4
  • 4
    • 0014578015 scopus 로고
    • Sociological and psychological factors associated with hearing loss (a review)
    • Vernon M. Sociological and psychological factors associated with hearing loss (a review). J Speech Hear Res. 1969;12:541-563.
    • (1969) J Speech Hear Res. , vol.12 , pp. 541-563
    • Vernon, M.1
  • 5
    • 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
  • 6
    • 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;1:50(1):32-38.
    • (1994) Am J Med Genet. , vol.1-50 , Issue.1 , pp. 32-38
    • Smith, R.J.1    Berlin, C.I.2    Hejtmancik, J.F.3
  • 7
    • 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;2:374(6517):60-61.
    • (1995) Nature. , vol.2-374 , Issue.6517 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 8
    • 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(1):56-60.
    • (2000) Nat Genet. , vol.26 , Issue.1 , pp. 56-60
    • Bitner-Glindzicz, M.1    Lindley, K.J.2    Rutland, P.3
  • 9
    • 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(1):51-55.
    • (2000) Nat Genet. , vol.26 , Issue.1 , pp. 51-55
    • Verpy, E.1    Leibovici, M.2    Zwaenepoel, I.3
  • 10
    • 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, Ramírez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27(1):108-112.
    • (2001) Nat Genet. , vol.27 , Issue.1 , pp. 108-112
    • Bolz, H.1    von Brederlow, B.2    Ramírez, A.3
  • 11
    • 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(1):26-37.
    • (2001) Am J Hum Genet. , vol.68 , Issue.1 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3
  • 12
    • 0035421436 scopus 로고    scopus 로고
    • Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (published correction in Hum Mol Genet 2001 Oct 15;10(22):2603)
    • Alagramam KN, Yuan H, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (published correction in Hum Mol Genet 2001 Oct 15;10(22):2603). Hum Mol Genet. 2001;1:10(16):1709-1718.
    • (2001) Hum Mol Genet. , vol.1-10 , Issue.16 , pp. 1709-1718
    • Alagramam, K.N.1    Yuan, H.2    Kuehn, M.H.3
  • 13
    • 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(1):25-34.
    • (2001) Am J Hum Genet. , vol.69 , Issue.1 , pp. 25-34
    • Ahmed, Z.M.1    Riazuddin, S.2    Bernstein, S.L.3
  • 14
    • 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;1:12(5):463-71.
    • (2003) Hum Mol Genet. , vol.1-12 , Issue.5 , pp. 463-471
    • Weil, D.1    El-Amraoui, A.2    Masmoudi, S.3
  • 15
    • 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;12:280(5370):1753-1757.
    • (1998) Science. , vol.12-280 , Issue.5370 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3
  • 16
    • 1842592042 scopus 로고    scopus 로고
    • Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    • van Wijk E, Pennings RJ, te Brinke H, et al. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004;74(4):738-744.
    • (2004) Am J Hum Genet. , vol.74 , Issue.4 , pp. 738-744
    • van Wijk, E.1    Pennings, R.J.2    Te Brinke, H.3
  • 17
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II (published correction in Am J Hum Genet. 2004;74(5):1080)
    • Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II (published correction in Am J Hum Genet. 2004;74(5):1080). Am J Hum Genet. 2004;74(2):357-366.
    • (2004) Am J Hum Genet. , vol.74 , Issue.2 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.2    Humphrey, K.D.3    Möller, C.4    Kimberling, W.J.5
  • 18
    • 33947148611 scopus 로고    scopus 로고
    • A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    • Ebermann I, Scholl HP, Charbel Issa P, et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet. 2007;121(2):203-211.
    • (2007) Hum Genet. , vol.121 , Issue.2 , pp. 203-211
    • Ebermann, I.1    Scholl, H.P.2    Charbel Issa, P.3
  • 19
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3 (published correction in Am J Hum Genet. 2001;69(5):1160)
    • Joensuu T, Hämäläinen R, Yuan B, et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3 (published correction in Am J Hum Genet. 2001;69(5):1160). Am J Hum Genet. 2001;69(4):673-684.
    • (2001) Am J Hum Genet. , vol.69 , Issue.4 , pp. 673-684
    • Joensuu, T.1    Hämäläinen, R.2    Yuan, B.3
  • 20
    • 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(4):813-821.
    • (1997) Am J Hum Genet. , vol.61 , Issue.4 , pp. 813-821
    • Adato, A.1    Weil, D.2    Kalinski, H.3
  • 21
    • 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(2):133-140.
    • (1999) Hum Mutat. , vol.13 , Issue.2 , pp. 133-140
    • Janecke, A.R.1    Meins, M.2    Sadeghi, M.3
  • 22
    • 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, Berson EL, Dryja TP. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res. 2000;71(2):173-181.
    • (2000) Exp Eye Res. , vol.71 , Issue.2 , pp. 173-181
    • Bharadwaj, A.K.1    Kasztejna, J.P.2    Huq, S.3    Berson, E.L.4    Dryja, T.P.5
  • 23
    • 33749346050 scopus 로고    scopus 로고
    • French Usher Syndrome Collaboration. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
    • Roux AF, Faugère V, Le Guédard S, et al. French Usher Syndrome Collaboration. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43(9):763-768.
    • (2006) J Med Genet. , vol.43 , Issue.9 , pp. 763-768
    • Roux, A.F.1    Faugère, V.2    le Guédard, S.3
  • 24
    • 33746626074 scopus 로고    scopus 로고
    • Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
    • Jaijo T, Aller E, Oltra S, et al. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat. 2006;27(3):290-291.
    • (2006) Hum Mutat. , vol.27 , Issue.3 , pp. 290-291
    • Jaijo, T.1    Aller, E.2    Oltra, S.3
  • 25
    • 0348013128 scopus 로고    scopus 로고
    • PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    • Ahmed ZM, Riazuddin S, Ahmad J, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;15:12(24):3215-3223.
    • (2003) Hum Mol Genet. , vol.12-15 , Issue.24 , pp. 3215-3223
    • Ahmed, Z.M.1    Riazuddin, S.2    Ahmad, J.3
  • 26
    • 14044278263 scopus 로고    scopus 로고
    • Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    • Ouyang XM, Yan D, Du LL, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116(4):292-299.
    • (2005) Hum Genet. , vol.116 , Issue.4 , pp. 292-299
    • Ouyang, X.M.1    Yan, D.2    Du, L.L.3
  • 27
    • 34848865624 scopus 로고    scopus 로고
    • Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome
    • Aller E, Jaijo T, Beneyto M, et al. Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. Ophthalmic Genet. 2007;28(3):151-155.
    • (2007) Ophthalmic Genet. , vol.28 , Issue.3 , pp. 151-155
    • Aller, E.1    Jaijo, T.2    Beneyto, M.3
  • 28
    • 34548014988 scopus 로고    scopus 로고
    • Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
    • Baux D, Larrieu L, Blanchet C, et al. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat. 2007;28(8):781-789.
    • (2007) Hum Mutat. , vol.28 , Issue.8 , pp. 781-789
    • Baux, D.1    Larrieu, L.2    Blanchet, C.3
  • 29
    • 41449108355 scopus 로고    scopus 로고
    • Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    • Dreyer B, Brox V, Tranebjaerg L, et al. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat. 2008;29(3):451.
    • (2008) Hum Mutat. , vol.29 , Issue.3 , pp. 451
    • Dreyer, B.1    Brox, V.2    Tranebjaerg, L.3
  • 30
    • 0142209180 scopus 로고    scopus 로고
    • Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
    • Ness SL, Ben-Yosef T, Bar-Lev A, et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet. 2003;40(10):767-772.
    • (2003) J Med Genet. , vol.40 , Issue.10 , pp. 767-772
    • Ness, S.L.1    Ben-Yosef, T.2    Bar-Lev, A.3
  • 31
    • 9444292360 scopus 로고    scopus 로고
    • Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: Low prevalence and phenotypic variability
    • Aller E, Jaijo T, Oltra S, et al. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Clin Genet. 2004;66(6):525-529.
    • (2004) Clin Genet. , vol.66 , Issue.6 , pp. 525-529
    • Aller, E.1    Jaijo, T.2    Oltra, S.3
  • 32
    • 33847282820 scopus 로고    scopus 로고
    • Development of a genotyping microarray for Usher syndrome
    • Cremers FP, Kimberling WJ, Külm M, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007;44(2):153-160.
    • (2007) J Med Genet. , vol.44 , Issue.2 , pp. 153-160
    • Cremers, F.P.1    Kimberling, W.J.2    Külm, M.3
  • 33
    • 34147187315 scopus 로고    scopus 로고
    • MYO7A mutation screening in Usher syndrome type I patients from diverse origins
    • Jaijo T, Aller E, Beneyto M, et al. MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet. 2007;44(3):e71.
    • (2007) J Med Genet. , vol.44 , Issue.3
    • Jaijo, T.1    Aller, E.2    Beneyto, M.3
  • 34
    • 1642618120 scopus 로고    scopus 로고
    • Arrayed primer extension solid-phase four-color DNA resequencing and mutation detection technology
    • Kurg A, Tonisson N, Georgiou I, et al. Arrayed primer extension solid-phase four-color DNA resequencing and mutation detection technology. Genet Test. 2000;4:1-7.
    • (2000) Genet Test. , vol.4 , pp. 1-7
    • Kurg, A.1    Tonisson, N.2    Georgiou, I.3
  • 35
    • 0037117504 scopus 로고    scopus 로고
    • Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene
    • Tonisson N, Zernant J, Kurg A, et al. Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene. Proc Natl Acad Sci U S A. 2002;99:5503-5508.
    • (2002) Proc Natl Acad Sci U S A. , vol.99 , pp. 5503-5508
    • Tonisson, N.1    Zernant, J.2    Kurg, A.3
  • 37
    • 10744227207 scopus 로고    scopus 로고
    • Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
    • Jaakson K, Zernant J, Külm M, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003;22:395-403.
    • (2003) Hum Mutat. , vol.22 , pp. 395-403
    • Jaakson, K.1    Zernant, J.2    Külm, M.3
  • 38
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion (published correction in Hum Mutat 2002 Nov;20(5):403)
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion (published correction in Hum Mutat 2002 Nov;20(5):403). Hum Mutat. 2000;15(1):7-12.
    • (2000) Hum Mutat. , vol.15 , Issue.1 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 39
    • 47049104624 scopus 로고    scopus 로고
    • Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I
    • Oshima A, Jaijo T, Aller E, et al. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008;29(6):E37-E46.
    • (2008) Hum Mutat. , vol.29 , Issue.6
    • Oshima, A.1    Jaijo, T.2    Aller, E.3
  • 41
    • 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(2):262-275.
    • (2002) Am J Hum Genet. , vol.71 , Issue.2 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3
  • 42
    • 0037268763 scopus 로고    scopus 로고
    • Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: High prevalence and phenotypic variation
    • Bernal S, Ayuso C, Antiñolo G, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003;40(1):e8.
    • (2003) J Med Genet. , vol.40 , Issue.1
    • Bernal, S.1    Ayuso, C.2    Antiñolo, G.3
  • 44
    • 0037261368 scopus 로고    scopus 로고
    • Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene
    • Pennings RJ, Huygen PL, Weston MD, et al. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene. Otol Neurotol. 2003;24(1):58-63.
    • (2003) Otol Neurotol. , vol.24 , Issue.1 , pp. 58-63
    • Pennings, R.J.1    Huygen, P.L.2    Weston, M.D.3
  • 45
    • 2442656582 scopus 로고    scopus 로고
    • Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
    • Aller E; Najera C, Millan JM, et al. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet. 2004;12, 407-410.
    • (2004) Eur J Hum Genet. , vol.12 , pp. 407-410
    • Aller, E.1    Najera, C.2    Millan, J.M.3
  • 47
    • 23844543556 scopus 로고    scopus 로고
    • Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype: Phenotype correlation
    • Bernal S, Medá C, Solans T, et al. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype: phenotype correlation. Clin Genet. 2005;68(3):204-214.
    • (2005) Clin Genet. , vol.68 , Issue.3 , pp. 204-214
    • Bernal, S.1    Medá, C.2    Solans, T.3
  • 48
    • 0242711914 scopus 로고    scopus 로고
    • A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    • Ben-Yosef T, Ness SL, Madeo AC, et al. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med. 2003;24:348(17):1664-1670.
    • (2003) N Engl J Med. , vol.24-348 , Issue.17 , pp. 1664-1670
    • Ben-Yosef, T.1    Ness, S.L.2    Madeo, A.C.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(3):909-912.
    • (1998) Am J Hum Genet. , vol.63 , Issue.3 , pp. 909-912
    • Liu, X.Z.1    Hope, C.2    Walsh, J.3
  • 50
    • 4344578456 scopus 로고    scopus 로고
    • Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    • Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res. 2004;79(2):167-173.
    • (2004) Exp Eye Res. , vol.79 , Issue.2 , pp. 167-173
    • Seyedahmadi, B.J.1    Rivolta, C.2    Keene, J.A.3    Berson, E.L.4    Dryja, T.P.5
  • 51
    • 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, Kimberling WJ, Bonne-Tamir A. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat. 2000;15(4):388.
    • (2000) Hum Mutat. , vol.15 , Issue.4 , pp. 388
    • Adato, A.1    Weston, M.D.2    Berry, A.3    Kimberling, W.J.4    Bonne-Tamir, A.5
  • 52
    • 31144478298 scopus 로고    scopus 로고
    • Dissection of epistasis in oligogenic Bardet-Biedl syndrome
    • Badano JL, Leitch CC, Ansley SJ, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006 19;439(7074):326-330.
    • (2006) Nature , vol.19-439 , Issue.7074 , pp. 326-330
    • Badano, J.L.1    Leitch, C.C.2    Ansley, S.J.3
  • 53
    • 67349141319 scopus 로고    scopus 로고
    • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
    • Published online May 10
    • Khanna H, Davis EE, Murga-Zamalloa CA, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. Published online May 10, 2009.
    • (2009) Nat Genet
    • Khanna, H.1    Davis, E.E.2    Murga-Zamalloa, C.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.