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Volumn 13, Issue 5, 1998, Pages 218-222

The genetics of mental retardation;Genetica del retraso mental

Author keywords

Chromosomopathy; Mental retardation; Monogenic diseases; X linked mental retardation

Indexed keywords

CHROMOSOME ANALYSIS; FRAGILE X SYNDROME; HUMAN; MENTAL DEFICIENCY; MONOGENIC DISORDER; REVIEW; X CHROMOSOME LINKED DISORDER; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; GENETIC COUNSELING; GENETICS; PRENATAL DIAGNOSIS; X CHROMOSOME;

EID: 0031866722     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (25)
  • 1
    • 0025817417 scopus 로고
    • X-Ilnked mental retardation
    • Glas IA. X-Ilnked mental retardation. J Med Genet 1991; 28: 361-371.
    • (1991) J Med Genet , vol.28 , pp. 361-371
    • Glas, I.A.1
  • 3
    • 0016588841 scopus 로고
    • A cytogenetic survey of 14,069 newborn infants, I: Incidence of chromosome abnormalities
    • Hamerton JL, Cannings N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants, I: incidence of chromosome abnormalities. Clin Genet 1975; 8: 223-243.
    • (1975) Clin Genet , vol.8 , pp. 223-243
    • Hamerton, J.L.1    Cannings, N.2    Ray, M.3    Smith, S.4
  • 4
    • 0014665910 scopus 로고
    • The triplo X female: An appraisal based on a study of 12 cases and a review of the literature
    • Barr ML, Sergovich FR, Carr DH, Shaver EL. The triplo X female: an appraisal based on a study of 12 cases and a review of the literature. Canad Med Ass J 1969; 101: 247-258.
    • (1969) Canad Med Ass J , vol.101 , pp. 247-258
    • Barr, M.L.1    Sergovich, F.R.2    Carr, D.H.3    Shaver, E.L.4
  • 6
    • 0026566594 scopus 로고
    • Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
    • Smeets D, Hamel B, Nelen M, Smeets U, Bollen J, Smits A et al. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 1992; 326: 807-811.
    • (1992) N Engl J Med , vol.326 , pp. 807-811
    • Smeets, D.1    Hamel, B.2    Nelen, M.3    Smeets, U.4    Bollen, J.5    Smits, A.6
  • 9
    • 0021278927 scopus 로고
    • New chromosomal syndrome: Miller-Dicker syndrome and monosomy 17p13
    • Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dicker syndrome and monosomy 17p13. Hum Genet 1984; 67: 193-200.
    • (1984) Hum Genet , vol.67 , pp. 193-200
    • Stratton, R.F.1    Dobyns, W.B.2    Airhart, S.D.3    Ledbetter, D.H.4
  • 10
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 con cause di George syndrome
    • De la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 con cause Di George syndrome. Hum Genet 1981; 57: 253-256.
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 11
    • 13144262480 scopus 로고
    • Atlas de malformaciones somáticas en el niño
    • Barcelona: Editorial Pediátrica
    • Smith DW. Atlas de malformaciones somáticas en el niño. Aspectos genéticos, embriológicos y clínicos. Barcelona: Editorial Pediátrica, 1972; 316.
    • (1972) Aspectos Genéticos, Embriológicos y Clínicos , pp. 316
    • Smith, D.W.1
  • 12
    • 0017934327 scopus 로고
    • Retinoblastoma and subband deletion of chromosome 13
    • Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 1978; 132: 161-163.
    • (1978) Am J Dis Child , vol.132 , pp. 161-163
    • Yunis, J.J.1    Ramsay, N.2
  • 14
    • 0022578671 scopus 로고
    • Multifocal meningiomas in a patient with a contitutional ring chromosome 22
    • Arinami T, Kondo I, Hamaguchi H, Nakajima S. Multifocal meningiomas in a patient with a contitutional ring chromosome 22. J Med Genet 1986; 23: 178-180.
    • (1986) J Med Genet , vol.23 , pp. 178-180
    • Arinami, T.1    Kondo, I.2    Hamaguchi, H.3    Nakajima, S.4
  • 16
    • 0018600186 scopus 로고
    • Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm
    • Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT. Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 1979; 16: 389-392.
    • (1979) J Med Genet , vol.16 , pp. 389-392
    • Lindenbaum, R.H.1    Clarke, G.2    Patel, C.3    Moncrieff, M.4    Hughes, J.T.5
  • 17
    • 0021839541 scopus 로고
    • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod Syndrome
    • Franke U, Ochs HD, Martinville B, Giacalone J, Lindgren V, Distche C et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod Syndrome. Am J Hum Genet 1985; 37: 250-267.
    • (1985) Am J Hum Genet , vol.37 , pp. 250-267
    • Franke, U.1    Ochs, H.D.2    Martinville, B.3    Giacalone, J.4    Lindgren, V.5    Distche, C.6
  • 18
    • 0013455952 scopus 로고
    • Mendelian inheritance in man
    • Baltimore: The John Hopkins University Press
    • a ed.). Baltimore: The John Hopkins University Press, 1988.
    • (1988) a Ed.)
    • McKusick, V.A.1
  • 21
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs HA. A marker X chromosome. Am J Hum Genet 1969; 21: 231-244.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-244
    • Lubs, H.A.1
  • 22
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coinciding with a breakpoint cluster region exhibiting lenght variation in fragile X syndrome
    • Verkerk A, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A. Identification of a gene (FMR-1) containing a CGG repeat coinciding with a breakpoint cluster region exhibiting lenght variation in fragile X syndrome. Cell 1991; 65: 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.A.5    Pizzuti, A.6
  • 23
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethy lation of a CpG island in FRAXE mental retardation
    • Kanight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps RS. Trinucleotide repeat amplification and hypermethy lation of a CpG island in FRAXE mental retardation. Cell 1993; 74: 127-134.
    • (1993) Cell , vol.74 , pp. 127-134
    • Kanight, S.J.L.1    Flannery, A.V.2    Hirst, M.C.3    Campbell, L.4    Christodoulou, Z.5    Phelps, R.S.6
  • 24
    • 0020744410 scopus 로고
    • Adjacent 2 translocation involving 13q and 21q
    • Prieto F, Badía L. Adjacent 2 translocation involving 13q and 21q. J Med Genet 1983; 20: 155.
    • (1983) J Med Genet , vol.20 , pp. 155
    • Prieto, F.1    Badía, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.