메뉴 건너뛰기




Volumn 8, Issue 4, 2000, Pages 253-258

Systematic analysis of X-inactivation in 19 XLMR families: Extremely skewed profiles in carriers in three families

Author keywords

Mental retardation; Skewed X inactivation; XLMR carriers

Indexed keywords

DNA;

EID: 0034079362     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200437     Document Type: Article
Times cited : (20)

References (15)
  • 3
    • 16944364477 scopus 로고    scopus 로고
    • A gene for dominant nonspecific X-linked mental retardation located in Xq28
    • Des Portes V, Billuart P, Carrier A et al: A gene for dominant nonspecific X-linked mental retardation located in Xq28. Am J Hum Genet 1997; 60: 903-909.
    • (1997) Am J Hum Genet , vol.60 , pp. 903-909
    • Des Portes, V.1    Billuart, P.2    Carrier, A.3
  • 4
    • 0029949942 scopus 로고    scopus 로고
    • X chromosome inactivation and X-linked mental retardation
    • Willard HF: X chromosome inactivation and X-linked mental retardation. Am J Med Genet 1996; 64: 21-26.
    • (1996) Am J Med Genet , vol.64 , pp. 21-26
    • Willard, H.F.1
  • 5
    • 0029885015 scopus 로고    scopus 로고
    • Genetic control of X inactivation and processes leading to X-inactivation skewing
    • Belmont JW: Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101-1108.
    • (1996) Am J Hum Genet , vol.58 , pp. 1101-1108
    • Belmont, J.W.1
  • 6
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239.
    • (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
  • 7
    • 0030007789 scopus 로고    scopus 로고
    • An assay for X inactivation based on differential methylation at the fragile X locus, FMRI
    • Carrel L, Willard HF: An assay for X inactivation based on differential methylation at the fragile X locus, FMRI. Am J Med Genet 1996; 64: 27-30.
    • (1996) Am J Med Genet , vol.64 , pp. 27-30
    • Carrel, L.1    Willard, H.F.2
  • 8
    • 0032546246 scopus 로고    scopus 로고
    • X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family
    • Raynaud M, Ronce M, Ayrault A-D, Francannet C, Malpuech G, Moraine CI: X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. Am J Med Genet 1997; 76: 255-261.
    • (1997) Am J Med Genet , vol.76 , pp. 255-261
    • Raynaud, M.1    Ronce, M.2    Ayrault, A.-D.3    Francannet, C.4    Malpuech, G.5    Moraine, C.I.6
  • 9
    • 0033548696 scopus 로고    scopus 로고
    • Evidence for a new X-linked mental retardation gene in Xp21-Xp22. Clinical and molecular data in one family
    • Ronce N, Raynaud M, Toutain A et al: Evidence for a new X-linked mental retardation gene in Xp21-Xp22. Clinical and molecular data in one family. Am J Med Genet 1999; 83: 132-137.
    • (1999) Am J Med Genet , vol.83 , pp. 132-137
    • Ronce, N.1    Raynaud, M.2    Toutain, A.3
  • 11
    • 0032580161 scopus 로고    scopus 로고
    • Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    • Billuart P, Bienvenu T, Ronce N et el: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998; 392: 923-926.
    • (1998) Nature , vol.392 , pp. 923-926
    • Billuart, P.1    Bienvenu, T.2    Ronce, N.3
  • 12
    • 0033597287 scopus 로고    scopus 로고
    • X-linked non-specific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family
    • Gendrot C, Ronce N, Raynaud M et al. X-linked non-specific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. Am J Med Genet 1999; 83: 411-418.
    • (1999) Am J Med Genet , vol.83 , pp. 411-418
    • Gendrot, C.1    Ronce, N.2    Raynaud, M.3
  • 13
    • 0030862748 scopus 로고    scopus 로고
    • A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
    • Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am J Hum Genet 1997; 61: 233-238.
    • (1997) Am J Hum Genet , vol.61 , pp. 233-238
    • Ronce, N.1    Moizard, M.P.2    Robb, L.3    Toutain, A.4    Villard, L.5    Moraine, C.6
  • 14
    • 0031978782 scopus 로고    scopus 로고
    • Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers
    • Martinez F, Tomas M, Millan JM, Fernandez A, Palau F, Prieto F: Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. J Med Genet 1998; 35: 284-287.
    • (1998) J Med Genet , vol.35 , pp. 284-287
    • Martinez, F.1    Tomas, M.2    Millan, J.M.3    Fernandez, A.4    Palau, F.5    Prieto, F.6
  • 15
    • 0026687110 scopus 로고
    • X linked alpha-thalassaemia/mental retardation (ATRX) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis
    • Gibbons RL, Suthers GK, Wilkie AOM, Buckle VJ, Higgs DR: X linked alpha-thalassaemia/mental retardation (ATRX) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet 1992; 51: 1136-1149.
    • (1992) Am J Hum Genet , vol.51 , pp. 1136-1149
    • Gibbons, R.L.1    Suthers, G.K.2    Wilkie, A.O.M.3    Buckle, V.J.4    Higgs, D.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.