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Volumn 17, Issue , 2011, Pages 1662-1668

Molecular epidemiology of Usher syndrome in Italy

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MOLECULAR EPIDEMIOLOGY; PRIORITY JOURNAL; USHER SYNDROME;

EID: 79960011547     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (32)

References (33)
  • 3
    • 0031014526 scopus 로고    scopus 로고
    • Usher syndrome in the city of Birmingham-prevalence and clinical classification
    • PMID: 9135408
    • Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham-prevalence and clinical classification. Br J Ophthalmol 1997; 81:46-53. [PMID: 9135408]
    • (1997) Br J Ophthalmol , vol.81 , pp. 46-53
    • Hope, C.I.1    Bundey, S.2    Proops, D.3    Fielder, A.R.4
  • 4
    • 0008488382 scopus 로고    scopus 로고
    • Epidemiology of Usher syndrome in Valencia and Spain
    • PMID: 15178965
    • Espinós C, Millan JM, Beneyto M, Najera C. Epidemiology of Usher syndrome in Valencia and Spain. Community Genet 1998; 1:223-228. [PMID: 15178965]
    • (1998) Community Genet , vol.1 , pp. 223-228
    • Espinós, C.1    Millan, J.M.2    Beneyto, M.3    Najera, C.4
  • 5
    • 0036951477 scopus 로고    scopus 로고
    • Prevalence and geographical distribution of Usher syndrome in Germany
    • PMID: 12107518
    • Spandau UH, Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002; 240:495-498. [PMID: 12107518]
    • (2002) Graefes Arch Clin Exp Ophthalmol , vol.240 , pp. 495-498
    • Spandau, U.H.1    Rohrschneider, K.2
  • 17
    • 0029780071 scopus 로고    scopus 로고
    • Genetic heterogeneity of Usher syndrome type II in a Dutch population
    • PMID: 8880575
    • Pieke-Dahl S, van Aarem A, Dobin A, Cremers CW, Kimberling WJ. Genetic heterogeneity of Usher syndrome type II in a Dutch population. J Med Genet 1996; 33:753-757. [PMID: 8880575]
    • (1996) J Med Genet , vol.33 , pp. 753-757
    • Pieke-Dahl, S.1    van Aarem, A.2    Dobin, A.3    Cremers, C.W.4    Kimberling, W.J.5
  • 19
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate Gprotein signaling in the pathogenesis of Usher syndrome type II
    • PMID: 14740321
    • Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate Gprotein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004; 74:357-366. [PMID: 14740321]
    • (2004) Am J Hum Genet , vol.74 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.2    Humphrey, K.D.3    Moller, C.4    Kimberling, W.J.5
  • 21
    • 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
    • PMID: 17171570
    • Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H. 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; 121:203-211. [PMID: 17171570]
    • (2007) Hum Genet , vol.121 , pp. 203-211
    • Ebermann, I.1    Scholl, H.P.2    Charbel, I.P.3    Becirovic, E.4    Lamprecht, J.5    Jurklies, B.6    Millan, J.M.7    Aller, E.8    Mitter, D.9    Bolz, H.10
  • 25
    • 0029761797 scopus 로고    scopus 로고
    • Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation
    • PMID: 8787694
    • Pastinen T, Partanen J, Syvanen AC. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem 1996; 42:1391-1397. [PMID: 8787694]
    • (1996) Clin Chem , vol.42 , pp. 1391-1397
    • Pastinen, T.1    Partanen, J.2    Syvanen, A.C.3
  • 26
    • 0029877956 scopus 로고    scopus 로고
    • Mutation detection by solid phase primer extension
    • PMID: 8723685
    • Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat 1996; 7:346-354. [PMID: 8723685]
    • (1996) Hum Mutat , vol.7 , pp. 346-354
    • Shumaker, J.M.1    Metspalu, A.2    Caskey, C.T.3
  • 32
    • 79960003424 scopus 로고    scopus 로고
    • Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function
    • Epub 2008 Aug 13, PubMed: 18700726
    • Watanabe S, Umeki N, Ikebe R, Ikebe M, Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. Biochemistry, 2008, 479, 505-513, Epub 2008 Aug 13 [PubMed: 18700726]
    • (2008) Biochemistry , vol.479 , pp. 505-513
    • Watanabe, S.1    Umeki, N.2    Ikebe, R.3    Ikebe, M.4
  • 33
    • 12344290645 scopus 로고    scopus 로고
    • Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    • PMID: 15537665
    • 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; 14:103-111. [PMID: 15537665]
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.