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Volumn 17, Issue 1, 1997, Pages 92-95

Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DYSOSTOSIS; EPILEPSY; FEMALE; GOLTZ SYNDROME; HUMAN; LETHALITY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SPONTANEOUS ABORTION; X CHROMOSOME DOMINANT INHERITANCE;

EID: 0030754979     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0997-92     Document Type: Article
Times cited : (116)

References (29)
  • 3
    • 0016837235 scopus 로고
    • Orofaciodigital syndrome, type I: A phenotypic and genetic analysis
    • Melnick, M. & Shields, E.D. Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. Oral Surg. Oral Med. Oral Pathol. 40, 599-610 (1975).
    • (1975) Oral Surg. Oral Med. Oral Pathol. , vol.40 , pp. 599-610
    • Melnick, M.1    Shields, E.D.2
  • 4
    • 16944365642 scopus 로고
    • Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
    • Eksioglu, Y.Z. et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 7, 117-119 (1992).
    • (1992) Neuron , vol.7 , pp. 117-119
    • Eksioglu, Y.Z.1
  • 5
    • 0020518307 scopus 로고
    • X-linked dominant inherited diseases with lethality in hemizygous males
    • Wettke-Schafer, R. & Kantner, G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum. Genet 64, 1-23 (1983).
    • (1983) Hum. Genet , vol.64 , pp. 1-23
    • Wettke-Schafer, R.1    Kantner, G.2
  • 6
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome; report of 35 cases
    • Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome; report of 35 cases. Ann. Neurol. 14, 471-479 (1983).
    • (1983) Ann. Neurol. , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 7
    • 0024375892 scopus 로고
    • Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome
    • Donnenfeld, A.E. et al. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am. J. Med. Genet 32, 461-467 (1989).
    • (1989) Am. J. Med. Genet , vol.32 , pp. 461-467
    • Donnenfeld, A.E.1
  • 8
    • 0027958509 scopus 로고
    • Microphthalmia with linear skin defects (MIS) syndrome: Clinical, cytogenetic, and molecular characterization
    • Lindsay, E.A. et al. Microphthalmia with linear skin defects (MIS) syndrome: clinical, cytogenetic, and molecular characterization. Am. J. Med. Genet 49, 229-234 (1994).
    • (1994) Am. J. Med. Genet , vol.49 , pp. 229-234
    • Lindsay, E.A.1
  • 10
    • 0015149375 scopus 로고
    • A new familial form of convulsive disorder and mental retardation limited to females
    • Juberg, R.C. & Hellman, C.D. A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726-732 (1971).
    • (1971) J. Pediatr. , vol.79 , pp. 726-732
    • Juberg, R.C.1    Hellman, C.D.2
  • 11
    • 0025092546 scopus 로고
    • A familial form of convulsive disorder with or without mental retardation limited to females: Extension of a pedigree limits possible genetic mechanisms
    • Fabisiak, K. & Erickson, R.P. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin. Genet 38, 353-358 (1990).
    • (1990) Clin. Genet , vol.38 , pp. 353-358
    • Fabisiak, K.1    Erickson, R.P.2
  • 12
    • 0029416826 scopus 로고
    • An STS-based map of the human genome
    • Hudson, T.J. et al. An STS-based map of the human genome. Science 270, 1945-1954 (1995).
    • (1995) Science , vol.270 , pp. 1945-1954
    • Hudson, T.J.1
  • 13
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5, 264 microsatellites
    • Dib, C. et al. A comprehensive genetic map of the human genome based on 5, 264 microsatellites. Nature 380, 152-154 (1996).
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 14
    • 0027942568 scopus 로고
    • A comprehensive human linkage map with centimorgan density
    • Murray, J.C. et al. and the Cooperative Human Linkage Center (CHLC). A comprehensive human linkage map with centimorgan density. Science 265, 2049-2054 (1994).
    • (1994) Science , vol.265 , pp. 2049-2054
    • Murray, J.C.1
  • 15
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1
  • 16
    • 0025961771 scopus 로고
    • A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
    • Brown, C.J. et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349, 38-44 (1991).
    • (1991) Nature , vol.349 , pp. 38-44
    • Brown, C.J.1
  • 18
    • 0026678490 scopus 로고
    • Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. & Belmont, J.W. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet 51, 1229-1239 (1992).
    • (1992) Am. J. Hum. Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 20
    • 16944365724 scopus 로고
    • Le syndrome oro-faciodigital: Étude clinique et génétique à propos de 10 cas observ̀s dans une meme famille
    • Vaillaud, J.C., Martin, J., Szepetowski, G. & Robert, J.M. Le syndrome oro-faciodigital: étude clinique et génétique à propos de 10 cas observ̀s dans une meme famille. Rev. Pediatr. 4, 383-392 (1968).
    • (1968) Rev. Pediatr. , vol.4 , pp. 383-392
    • Vaillaud, J.C.1    Martin, J.2    Szepetowski, G.3    Robert, J.M.4
  • 21
    • 0021267488 scopus 로고
    • Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution
    • Page, D.C., Harper, M.E., Love, J. & Botstein, D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311, 119-123 (1984).
    • (1984) Nature , vol.311 , pp. 119-123
    • Page, D.C.1    Harper, M.E.2    Love, J.3    Botstein, D.4
  • 22
    • 0030939475 scopus 로고    scopus 로고
    • Evolutionary features of the 4 Mb Xq21.3 XY homology region revealed by a map at 60 kb resolution
    • in the press
    • Mumm, S., Molini, B., Terrell, J., Srivastava, A. & Schlessinger, D. Evolutionary features of the 4 Mb Xq21.3 XY homology region revealed by a map at 60 kb resolution. Genome Res. (in the press).
    • Genome Res.
    • Mumm, S.1    Molini, B.2    Terrell, J.3    Srivastava, A.4    Schlessinger, D.5
  • 23
    • 0019295852 scopus 로고
    • Metabolic interference and the +/- Heterozygote: A hypothetical form of simple inheritance which is neither dominant nor recessive
    • Johnson, W.F. Metabolic interference and the +/- heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive. Am. J. Hum. Genet 32, 374-386 (1980).
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 374-386
    • Johnson, W.F.1
  • 24
    • 0028969938 scopus 로고
    • Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22
    • Miller, A.P. et al. Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22. Hum. Mol. Genet. 4, 731-739 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 731-739
    • Miller, A.P.1
  • 25
    • 0029026562 scopus 로고
    • Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis inactivation
    • Jani, M.M., Torchia, B.S., Pai, G.S. & Migeon, B.R. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis inactivation. Genomics 27, 182-188 (1995).
    • (1995) Genomics , vol.27 , pp. 182-188
    • Jani, M.M.1    Torchia, B.S.2    Pai, G.S.3    Migeon, B.R.4
  • 26
    • 0026651547 scopus 로고
    • Startle disease, or hyperexplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
    • Ryan, S.G. et al. Startle disease, or hyperexplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann. Neurol. 31, 663-668 (1992).
    • (1992) Ann. Neurol. , vol.31 , pp. 663-668
    • Ryan, S.G.1
  • 27
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet 44, 388-396 (1989).
    • (1989) Am. J. Hum. Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 28
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet 37, 482-498 (1985).
    • (1985) Am. J. Hum. Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.