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Volumn 83, Issue 4, 1999, Pages 318-321

Compound heterozygous female with fragile X syndrome

Author keywords

Activation ratio; Compound heterozygote; FMRP; Fragile X syndrome; Full mutation; Mental retardation; Premutation

Indexed keywords

CELL PROTEIN; FLUOXETINE; FRAGILE X MENTAL RETARDATION 1 PROTEIN; METHYLPHENIDATE; UNCLASSIFIED DRUG;

EID: 0033515685     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990402)83:4<318::AID-AJMG16>3.0.CO;2-Y     Document Type: Article
Times cited : (14)

References (22)
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    • Bennetto, L.1    Pennington, B.F.2
  • 4
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    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys D, Lutz Y, Rouyer N, Bellocq J-P, Mandel J-L. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.-P.4    Mandel, J.-L.5
  • 5
    • 0028979161 scopus 로고
    • Quantitative comparison of FMR1 gene expression in normal and premutation alleles
    • Feng Y, Lakkis D, Warren ST. 1995. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 56:106-113.
    • (1995) Am J Hum Genet , vol.56 , pp. 106-113
    • Feng, Y.1    Lakkis, D.2    Warren, S.T.3
  • 6
    • 0027511297 scopus 로고
    • Psychiatric disorders associated with fragile X in the young female
    • Freund LS, Reiss AL, Abrams M. 1993. Psychiatric disorders associated with fragile X in the young female. Pediatrics 91:321-329.
    • (1993) Pediatrics , vol.91 , pp. 321-329
    • Freund, L.S.1    Reiss, A.L.2    Abrams, M.3
  • 7
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    • Physical and behavioral phenotype
    • Hagerman RJ, Cronister AC, editors. Baltimore: Johns Hopkins University Press
    • Hagerman RJ. 1996. Physical and behavioral phenotype. In Hagerman RJ, Cronister AC, editors. Fragile X syndrome: diagnosis, treatment, and research, 2nd ed. Baltimore: Johns Hopkins University Press, p 3-87.
    • (1996) Fragile X Syndrome: Diagnosis, Treatment, and Research, 2nd Ed. , pp. 3-87
    • Hagerman, R.J.1
  • 9
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    • Neuropsychological profiles of three sisters homozygous for the fragile X premutation
    • Mazzocco MMM, Holden JJA. 1996. Neuropsychological profiles of three sisters homozygous for the fragile X premutation. Am J Hum Genet 64:323-328.
    • (1996) Am J Hum Genet , vol.64 , pp. 323-328
    • Mazzocco, M.M.M.1    Holden, J.J.A.2
  • 10
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    • The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
    • Mazzocco MMM, Pennington BF, Hagerman RJ. 1993. The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 14:328-335.
    • (1993) J Dev Behav Pediatr , vol.14 , pp. 328-335
    • Mazzocco, M.M.M.1    Pennington, B.F.2    Hagerman, R.J.3
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    • Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte cultures
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    • Sutherland, G.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.