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Volumn 71, Issue 3, 2014, Pages 355-359

Newborn screening for fragile X syndrome

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 84896752738     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4808     Document Type: Review
Times cited : (45)

References (18)
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  • 2
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  • 3
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    • Newborn screening: toward a uniform screening panel and system. Genet Med. 2006; 8(suppl 1): 1S-252S.
    • (2006) Genet Med. , vol.8 , Issue.SUPPL. 1
  • 5
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    • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    • Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 2013; 12(8): 786-798.
    • (2013) Lancet Neurol. , vol.12 , Issue.8 , pp. 786-798
    • Hagerman, R.1    Hagerman, P.2
  • 6
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    • Murine hippocampal neurons expressing fmr1 gene premutations show early developmental deficits and late degeneration
    • Chen Y, Tassone F, Berman RF, et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet. 2010; 19(1): 196-208.
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  • 7
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    • Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency
    • Hoffman GE, Le WW, Entezam A, et al. Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem. 2012; 60(6): 439-456.
    • (2012) J Histochem Cytochem , vol.60 , Issue.6 , pp. 439-456
    • Hoffman, G.E.1    Le, W.W.2    Entezam, A.3
  • 8
    • 84867576326 scopus 로고    scopus 로고
    • Early mitochondrial abnormalities in hippocampal neurons cultured from fmr1 pre-mutation mouse model
    • Kaplan ES, Cao Z, Hulsizer S, et al. Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem. 2012; 123(4): 613-621.
    • (2012) J Neurochem , vol.123 , Issue.4 , pp. 613-621
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  • 9
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    • Enhanced asynchronous ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing fmr1 gene premutation expansion
    • Cao Z, Hulsizer S, Cui Y, et al. Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem. 2013; 288(19): 13831-13841.
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    • Cao, Z.1    Hulsizer, S.2    Cui, Y.3
  • 10
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    • FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
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    • (2012) Genome Med , vol.4 , Issue.12 , pp. 100
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  • 14
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    • Randomized, controlled trial of an intervention for toddlers with autism: The early start denver model
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  • 16
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.