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Volumn 44, Issue 2, 2007, Pages 153-160

Development of a genotyping microarray for Usher syndrome

(30)  Cremers, Frans P M a,d   Kimberling, William J b   Külm, Maigi c   De Brouwer, Arjan P a   Van Wijk, Erwin d   Te Brinke, Heleen d   Cremers, Cor W R J d   Hoefsloot, Lies H a   Banfi, Sandro e   Simonelli, Francesca f   Fleischhauer, Johannes C g   Berger, Wolfgang h   Kelley, Phil M b   Haralambous, Elene i   Bitner Glindzicz, Maria i   Webster, Andrew R j   Saihan, Zubin j   De Baere, Elfride k   Leroy, Bart P k   Silvestri, Giuliana l   more..


Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE;

EID: 33847282820     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.044784     Document Type: Article
Times cited : (97)

References (57)
  • 1
    • 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;51:314-21.
    • (1997) Clin Genet , vol.51 , pp. 314-321
    • Rosenberg, T.1    Haim, M.2    Hauch, A.M.3    Parving, A.4
  • 2
    • 0036951477 scopus 로고    scopus 로고
    • Prevalence and geographical distribution of Usher syndrome in Germany
    • Spandau UH, Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002;240:495-8.
    • (2002) Graefes Arch Clin Exp Ophthalmol , vol.240 , pp. 495-498
    • Spandau, U.H.1    Rohrschneider, K.2
  • 11
    • 0035158639 scopus 로고    scopus 로고
    • Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C. -Salcedó Cabrera M, Caballeró Vila M, Pelaez Molina O, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001;27:108-12.
    • Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C. -Salcedó Cabrera M, Caballeró Vila M, Pelaez Molina O, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001;27:108-12.
  • 12
    • 0035168168 scopus 로고    scopus 로고
    • Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CRS, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Der Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu X-Z, Wistow G, Smith RJH, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. 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.
    • Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CRS, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Der Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu X-Z, Wistow G, Smith RJH, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. 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.
  • 15
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    • Weston MD, Luijendijk MWJ, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004;74:357-66.
    • (2004) Am J Hum Genet , vol.74 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.J.2    Humphrey, K.D.3    Moller, C.4    Kimberling, W.J.5
  • 16
    • 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, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000;66:1975-8.
    • (2000) Am J Hum Genet , vol.66 , pp. 1975-1978
    • Rivolta, C.1    Sweklo, E.A.2    Berson, E.L.3    Dryja, T.P.4
  • 17
    • 4344578456 scopus 로고    scopus 로고
    • Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    • Jian Seyedahmadi B, 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;79:167-73.
    • (2004) Exp Eye Res , vol.79 , pp. 167-173
    • Jian Seyedahmadi, B.1    Rivolta, C.2    Keene, J.A.3    Berson, E.L.4    Dryja, T.P.5
  • 18
    • 33847261415 scopus 로고    scopus 로고
    • USH3A mutations in patients with a prior diagnosis of Usher syndrome type I, Usher syndrome type II, and nonsyndromic recessive retinitis pigmentosa
    • E-Abstract 4726
    • Jian Seyedahmadi B, Berson EL, Dryja TP. USH3A mutations in patients with a prior diagnosis of Usher syndrome type I, Usher syndrome type II, and nonsyndromic recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2004;45:E-Abstract 4726.
    • (2004) Invest Ophthalmol Vis Sci , vol.45
    • Jian Seyedahmadi, B.1    Berson, E.L.2    Dryja, T.P.3
  • 26
    • 33645405363 scopus 로고    scopus 로고
    • Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Martinez Ciriano JP, de Faber J-THN, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FPM. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006;47:1167-76.
    • Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Martinez Ciriano JP, de Faber J-THN, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FPM. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006;47:1167-76.
  • 27
    • 0029761797 scopus 로고    scopus 로고
    • Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation
    • Pastinen T, Partanen J, Syvanen AC. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem 1996;42:1391-7.
    • (1996) Clin Chem , vol.42 , pp. 1391-1397
    • Pastinen, T.1    Partanen, J.2    Syvanen, A.C.3
  • 28
    • 0029877956 scopus 로고    scopus 로고
    • Mutation detection by solid phase primer extension
    • Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat 1996;7:346-54.
    • (1996) Hum Mutat , vol.7 , pp. 346-354
    • Shumaker, J.M.1    Metspalu, A.2    Caskey, C.T.3
  • 29
    • 1642618120 scopus 로고    scopus 로고
    • Arrayed primer extension: Solid-phase four-color DNA resequencing and mutation detection technology
    • Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. 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    Shumaker, J.4    Tollett, J.5    Metspalu, A.6
  • 32
    • 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;71:173-81.
    • (2000) Exp Eye Res , vol.71 , pp. 173-181
    • Bharadwaj, A.K.1    Kasztejna, J.P.2    Huq, S.3    Berson, E.L.4    Dryja, T.P.5
  • 33
    • 0036635438 scopus 로고    scopus 로고
    • Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively
    • Najera C, Beneyto M, Bianca J, Aller E, Fontcuberta A, Millan JM, Ayuso C. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat 2002;20:76-7.
    • (2002) Hum Mutat , vol.20 , pp. 76-77
    • Najera, C.1    Beneyto, M.2    Bianca, J.3    Aller, E.4    Fontcuberta, A.5    Millan, J.M.6    Ayuso, C.7
  • 39
    • 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 RJE, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FPM, Cremers CWRJ, Kremer H. 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;74:738-44.
    • (2004) Am J Hum Genet , vol.74 , pp. 738-744
    • van Wijk, E.1    Pennings, R.J.E.2    te Brinke, H.3    Claassen, A.4    Yntema, H.G.5    Hoefsloot, L.H.6    Cremers, F.P.M.7    Cremers, C.W.R.J.8    Kremer, H.9
  • 41
    • 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;15:388.
    • (2000) Hum Mutat , vol.15 , pp. 388
    • Adato, A.1    Weston, M.D.2    Berry, A.3    Kimberling, W.J.4    Bonne-Tamir, A.5
  • 43
    • 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, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B. 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;61:813-21.
    • (1997) Am J Hum Genet , vol.61 , pp. 813-821
    • Adato, A.1    Weil, D.2    Kalinski, H.3    Pel-Or, Y.4    Ayadi, H.5    Petit, C.6    Korostishevsky, M.7    Bonne-Tamir, B.8
  • 45
    • 27644451922 scopus 로고    scopus 로고
    • Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: Application to genetic hearing loss disorders
    • Kimberling WJ. Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. Hum Mutat 2005;26:462-70.
    • (2005) Hum Mutat , vol.26 , pp. 462-470
    • Kimberling, W.J.1
  • 47
    • 29644441618 scopus 로고    scopus 로고
    • Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
    • Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 2005;14:3921-2.
    • (2005) Hum Mol Genet , vol.14 , pp. 3921-3922
    • Adato, A.1    Lefevre, G.2    Delprat, B.3    Michel, V.4    Michalski, N.5    Chardenoux, S.6    Weil, D.7    El-Amraoui, A.8    Petit, C.9
  • 49
    • 27844517356 scopus 로고    scopus 로고
    • Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
    • El-Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 2005;118:4593-603.
    • (2005) J Cell Sci , vol.118 , pp. 4593-4603
    • El-Amraoui, A.1    Petit, C.2
  • 51
    • 33646856845 scopus 로고    scopus 로고
    • Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    • Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 2006;83:97-119.
    • (2006) Exp Eye Res , vol.83 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3    Marker, T.4    Wolfrum, U.5
  • 53
    • 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, Chaib H, Korostishevsky M, Bonne-Tamir B. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet 1999;65:261-5.
    • (1999) Am J Hum Genet , vol.65 , pp. 261-265
    • Adato, A.1    Kalinski, H.2    Weil, D.3    Chaib, H.4    Korostishevsky, M.5    Bonne-Tamir, B.6
  • 55
    • 12344290645 scopus 로고    scopus 로고
    • Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    • Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet 2005;14:103-11.
    • (2005) Hum Mol Genet , vol.14 , pp. 103-111
    • Zheng, Q.Y.1    Yan, D.2    Ouyang, X.M.3    Du, L.L.4    Yu, H.5    Chang, B.6    Johnson, K.R.7    Liu, X.Z.8
  • 56
    • 33847315451 scopus 로고    scopus 로고
    • Screening of 51 newly identified USH2A exons among patients with Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    • E-Abstract 1801
    • Jian Seyedahmadi B, Berson EL, Dryja TP. Screening of 51 newly identified USH2A exons among patients with Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2005;46:E-Abstract 1801.
    • (2005) Invest Ophthalmol Vis Sci , vol.46
    • Jian Seyedahmadi, B.1    Berson, E.L.2    Dryja, T.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.