메뉴 건너뛰기




Volumn 41, Issue 8-9, 1996, Pages 893-900

Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q

Author keywords

amelogenesis imperfecta; autosomal dominant; enamel; human genetics; linkage analysis

Indexed keywords

AMELOGENINS; DNA; ENAMEL PROTEIN;

EID: 0030210023     PISSN: 00039969     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-9969(96)00010-6     Document Type: Article
Times cited : (20)

References (22)
  • 1
    • 0029262346 scopus 로고
    • Amelogenesis imperfecta: Towards a new classification
    • Aldred M. J. and Crawford P. J. M. (1995) Amelogenesis imperfecta: towards a new classification. Oral Diseases 1, 2-5.
    • (1995) Oral Diseases , vol.1 , pp. 2-5
    • Aldred, M.J.1    Crawford, P.J.M.2
  • 3
    • 0027074920 scopus 로고
    • Identification of a nonsense mutation in exon 5 of the amelogenin gene in a family with X-linked amelogenesis imperfecta
    • Aldred M. J., Crawford P. J. M., Roberts E. and Thomas N. S. T. (1992b) Identification of a nonsense mutation in exon 5 of the amelogenin gene in a family with X-linked amelogenesis imperfecta. Hum. Genet. 90, 413-416.
    • (1992) Hum. Genet. , vol.90 , pp. 413-416
    • Aldred, M.J.1    Crawford, P.J.M.2    Roberts, E.3    Thomas, N.S.T.4
  • 4
    • 0022670545 scopus 로고
    • Ammelogenesis imperfecta: Prevalence and incidence in a northern Swedish county
    • Bäckman B. and Holm A.-K. (1986) Ammelogenesis imperfecta: prevalence and incidence in a northern Swedish county. Community Dent. Oral. Epidemiol. 14, 43-47.
    • (1986) Community Dent. Oral. Epidemiol. , vol.14 , pp. 43-47
    • Bäckman, B.1    Holm, A.-K.2
  • 5
    • 0023750395 scopus 로고
    • Amelogenesis imperfecta: A genetic study
    • Bäckman B. and Holmgren G. (1988) Amelogenesis imperfecta: a genetic study. Human Heredity 38, 189-206.
    • (1988) Human Heredity , vol.38 , pp. 189-206
    • Bäckman, B.1    Holmgren, G.2
  • 6
    • 84989552698 scopus 로고
    • Amelogenesis imperfecta: Clinical manifestation in 51 families in a northern Swedish county
    • Bäckman B. (1988) Amelogenesis imperfecta: clinical manifestation in 51 families in a northern Swedish county. Scand. J. Dent. Res. 96, 505-516.
    • (1988) Scand. J. Dent. Res. , vol.96 , pp. 505-516
    • Bäckman, B.1
  • 7
    • 0027222012 scopus 로고
    • Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome
    • Crawford P. J. M. and Aldred M. J. (1993) Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome. Oral Surg. Oral Med. Pathol 76, 187-191.
    • (1993) Oral Surg. Oral Med. Pathol , vol.76 , pp. 187-191
    • Crawford, P.J.M.1    Aldred, M.J.2
  • 8
    • 0028464353 scopus 로고
    • Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization
    • Deutsch D., Palmon A., Young M. F., Selig S., Kearns W. G. and Fisher L. W. (1994) Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization. Mamm. Genome 5, 461-462.
    • (1994) Mamm. Genome , vol.5 , pp. 461-462
    • Deutsch, D.1    Palmon, A.2    Young, M.F.3    Selig, S.4    Kearns, W.G.5    Fisher, L.W.6
  • 9
    • 0028059583 scopus 로고
    • Localisation of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q
    • Forsman K., Lind L., Bäckman B., Westermark E. and Holmgren G. (1994) Localisation of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. Hum. Molec. Genet. 3, 1621-1625.
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 1621-1625
    • Forsman, K.1    Lind, L.2    Bäckman, B.3    Westermark, E.4    Holmgren, G.5
  • 11
    • 0031568256 scopus 로고    scopus 로고
    • Mapping of the locus for autosomae dominant amelogensis imperfecta (AIH2) to a 4 Mb YAC contig on chromosome 4q11-q21
    • in press
    • Kärrman C., Bäckman B., Dixon M., Holmgren G. and Forsman K. (1997). Mapping of the locus for autosomae dominant amelogensis imperfecta (AIH2) to a 4 Mb YAC contig on chromosome 4q11-q21. Genomics (in press).
    • (1997) Genomics
    • Kärrman, C.1    Bäckman, B.2    Dixon, M.3    Holmgren, G.4    Forsman, K.5
  • 14
    • 0028921003 scopus 로고
    • Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta
    • Lagerström-Fermér M., Nilsson M., Bäckman B. , Salido E., Shapiro L., Pettersson U. and Landegren U. (1995) Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics 26, 159-162.
    • (1995) Genomics , vol.26 , pp. 159-162
    • Lagerström-Fermér, M.1    Nilsson, M.2    Bäckman, B.3    Salido, E.4    Shapiro, L.5    Pettersson, U.6    Landegren, U.7
  • 15
    • 0021344005 scopus 로고
    • Easy calculations of Iod scores and genetic risks on small computers
    • Lathrop G. M. and Lalouel J. M. (1984) Easy calculations of Iod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 16
    • 0028223018 scopus 로고
    • SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta
    • Lench N. J., Brook A. H. and Winter G. B. (1994) SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta. Hum. Molec. Genet. 3, 827-828.
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 827-828
    • Lench, N.J.1    Brook, A.H.2    Winter, G.B.3
  • 20
    • 84941021107 scopus 로고
    • Hereditary defects in enamel and dentin
    • Witkop Jr C. J. J. (1957) Hereditary defects in enamel and dentin. Acta Genetica 7, 236-239.
    • (1957) Acta Genetica , vol.7 , pp. 236-239
    • Witkop C.J.J., Jr.1
  • 21
    • 0024117250 scopus 로고
    • Amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia revisited: Problems in classification
    • Witkop Jr C. J. J. (1989) Amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia revisited: problems in classification. J. Oral. Pathol. 17, 547-553.
    • (1989) J. Oral. Pathol. , vol.17 , pp. 547-553
    • Witkop C.J.J., Jr.1
  • 22
    • 0002460802 scopus 로고
    • Heritable defects of enamel
    • Eds Stewart R. E. and Prescott G. H. CV Mosby Company, St Louis, MO
    • Witkop Jr C. J. J. and Sauk Jr J. J. (1976) Heritable defects of enamel. In Oral Facial Genetics (Eds Stewart R. E. and Prescott G. H.), pp. 151-226. CV Mosby Company, St Louis, MO.
    • (1976) Oral Facial Genetics , pp. 151-226
    • Witkop C.J.J., Jr.1    Sauk J.J., Jr.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.