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European Journal of Human Genetics
Volumn 7, Issue 8, 1999, Pages 933-936
Germline and gonosomal mosaicism in the ATR-X syndrome
Author keywords

ATR X syndrome; ATRX mutation; Germline mosaicism; XLMR
Indexed keywords

ALPHA THALASSEMIA; ARTICLE; BLOOD; CHEEK; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GERM CELL; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; PROGENY; SEX CHROMOSOME MOSAICISM; X CHROMOSOME LINKAGE; ZYGOTE;
EID: 0033398927     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200387     Document Type: Article
Times cited : (22)
References (9)
  • 1
    • 0028831373 scopus 로고
    • The clinical and hematological features of the X-linked α thalassemia/ mental retardation syndrome (ATR-X)
    • Gibbons RJ, Brueton L, Buckle VJ et al: The clinical and hematological features of the X-linked α thalassemia/ mental retardation syndrome (ATR-X). Am J Med Genet 1995; 55: 288-299.
    • (1995) Am J Med Genet , vol.55 , pp. 288-299
    • Gibbons, R.J.1    Brueton, L.2    Buckle, V.J.3
  • 2
    • 0025942676 scopus 로고
    • α thalassaemia/mental retardation syndrome (non-deletion type): Report of a family supporting X linked inheritance
    • Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR: α thalassaemia/mental retardation syndrome (non-deletion type): report of a family supporting X linked inheritance. J Med Genet 1991; 28: 734-737.
    • (1991) J Med Genet , vol.28 , pp. 734-737
    • Donnai, D.1    Clayton-Smith, J.2    Gibbons, R.J.3    Higgs, D.R.4
  • 3
    • 0026687110 scopus 로고
    • X-linked a thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21.31 by X-inactivation and linkage analysis
    • Gibbons RJ, Suthers GK, Wilkie AOM, Buckle VJ, Higgs DR: X-linked a thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21.31 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.J.1    Suthers, G.K.2    Wilkie, A.O.M.3    Buckle, V.J.4    Higgs, D.R.5
  • 4
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 1995; 80: 837-845.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 5
    • 0031255159 scopus 로고    scopus 로고
    • Mutations in a transcriptional regulator (hATRX) establish the functional significance of a PHD-like domain
    • Gibbons RJ, Bachoo S, Picketts DJ et al: Mutations in a transcriptional regulator (hATRX) establish the functional significance of a PHD-like domain. Nat Genet 1997; 17: 146-148.
    • (1997) Nat Genet , vol.17 , pp. 146-148
    • Gibbons, R.J.1    Bachoo, S.2    Picketts, D.J.3
  • 6
    • 0029827343 scopus 로고    scopus 로고
    • ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
    • Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OWJ, Gibbons RJ: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet 1996; 5: 1899-1907.
    • (1996) Hum Mol Genet , vol.5 , pp. 1899-1907
    • Picketts, D.J.1    Higgs, D.R.2    Bachoo, S.3    Blake, D.J.4    Quarrell, O.W.J.5    Gibbons, R.J.6
  • 7
    • 0001788530 scopus 로고
    • The use of synthetic oligonucleotides as specific hybridisation probes in the diagnosis of genetic disorders
    • Davies KE (ed). IRL Press: Oxford
    • Thein SL, Wallace RB: The use of synthetic oligonucleotides as specific hybridisation probes in the diagnosis of genetic disorders. In: Davies KE (ed). Human Genetic Diseases: a Practical Approach. IRL Press: Oxford, 1986, pp 33-50.
    • (1986) Human Genetic Diseases: A Practical Approach , pp. 33-50
    • Thein, S.L.1    Wallace, R.B.2
  • 8
    • 8044233698 scopus 로고    scopus 로고
    • Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2
    • Oldridge M, Lunt PW, Zackai EH et al: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997; 6: 137-143.
    • (1997) Hum Mol Genet , vol.6 , pp. 137-143
    • Oldridge, M.1    Lunt, P.W.2    Zackai, E.H.3
  • 9
    • 0031946632 scopus 로고    scopus 로고
    • Germ line mosaicism
    • Zlotogora J: Germ line mosaicism. Hum Genet 1998; 102: 381-386.
    • (1998) Hum Genet , vol.102 , pp. 381-386
    • Zlotogora, J.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.