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Volumn 56, Issue 12, 2011, Pages 866-868

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13

Author keywords

1p36.31 p36.13; autosomal recessive nonsyndromic hearing impairment; CLCNKA; CLCNKB; DFNB96; ESPN

Indexed keywords

DNA;

EID: 84255188658     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.110     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • DOI 10.1086/301904
    • O'Connell, J. R. & Weeks, D. E. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet. 63, 259-266 (1998). (Pubitemid 30428342)
    • (1998) American Journal of Human Genetics , vol.63 , Issue.1 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 2
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002).
    • (2002) Nat. Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 5
    • 0034098774 scopus 로고    scopus 로고
    • Allegro, a new computer program for multipoint linkage analysis
    • DOI 10.1038/75514
    • Gudbjartsson, D. F., Jonasson, K., Frigge, M. L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12-13 (2000). (Pubitemid 30257026)
    • (2000) Nature Genetics , vol.25 , Issue.1 , pp. 12-13
    • Gudbjartsson, D.F.1    Jonasson, K.2    Frigge, M.L.3    Kong, A.4
  • 6
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247 (1995).
    • (1995) Nat. Genet , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 7
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
    • Sobel, E. & Lange, K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am. J. Hum. Genet. 58, 1323-1337 (1996). (Pubitemid 26153844)
    • (1996) American Journal of Human Genetics , vol.58 , Issue.6 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 8
    • 0029833063 scopus 로고    scopus 로고
    • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen
    • DOI 10.1093/hmg/5.9.1339
    • Richards, A. J., Yates, J. R. W., Williams, R., Payne, S. J., Pope, F. M., Scott, J. D. et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum. Mol. Genet. 5, 1339-1343 (1996). (Pubitemid 26335853)
    • (1996) Human Molecular Genetics , vol.5 , Issue.9 , pp. 1339-1343
    • Richards, A.J.1    Yates, J.R.W.2    Williams, R.3    Payne, S.J.4    Pope, F.M.5    Scott, J.D.6    Snead, M.P.7
  • 12
    • 0033524936 scopus 로고    scopus 로고
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
    • DOI 10.1016/S0092-8674(00)80556-5
    • Kubisch, C., Schroeder, B. C., Friedrich, T., Lutjohann, B., El-Amraoui, A., Marlin, S. et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96, 437-446 (1999). (Pubitemid 29077597)
    • (1999) Cell , vol.96 , Issue.3 , pp. 437-446
    • Kubisch, C.1    Schroeder, B.C.2    Friedrich, T.3    Lutjohann, B.4    El-Amraoui, A.5    Marlin, S.6    Petit, C.7    Jentsch, T.J.8
  • 14
    • 1842448797 scopus 로고    scopus 로고
    • A new locus for dominant progressive hearing loss DFNA37 mapped to chromosome 1p21
    • Talebizadeh, Z., Kenyon, J. B., Askew, J. W. & Smith, S. D. A new locus for dominant progressive hearing loss DFNA37 mapped to chromosome 1p21. Am. J. Hum. Genet. 67(Suppl 2), 314 (2000).
    • (2000) Am. J Hum. Genet , vol.67 , Issue.SUPPL. 2 , pp. 314
    • Talebizadeh, Z.1    Kenyon, J.B.2    Askew, J.W.3    Smith, S.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.