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Volumn 20, Issue 6, 2012, Pages 595-596

Questionable pathogenicity of FOXG1 duplication

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CHILD; CHROMOSOME 14Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; EPILEPSY; FOXG1 GENE; GENE; GENOME; HEMIFACIAL MICROSOMIA; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROLOGIC DISEASE; PATHOGENICITY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; WEST SYNDROME;

EID: 84861199848     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.267     Document Type: Letter
Times cited : (15)

References (8)
  • 1
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    • Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
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    • Brunetti-Pierri, N.1    Paciorkowski, A.R.2    Ciccone, R.3
  • 2
    • 70350621757 scopus 로고    scopus 로고
    • 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
    • Yeung A, Bruno D, Scheffer IE,et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009; 52: 440-442.
    • (2009) Eur J Med Genet , vol.52 , pp. 440-442
    • Yeung, A.1    Bruno, D.2    Scheffer, I.E.3
  • 3
    • 79955642804 scopus 로고    scopus 로고
    • West syndrome associated with 14q12 duplications harboring FOXG1
    • Striano P, Paravidino R, Sicca F,et al. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 2011; 76: 1600-1602.
    • (2011) Neurology , vol.76 , pp. 1600-1602
    • Striano, P.1    Paravidino, R.2    Sicca, F.3
  • 4
    • 80053094607 scopus 로고    scopus 로고
    • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
    • Tohyama J, Yamamoto T, Hosoki K,et al. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet 2011; 155: 2584-2588.
    • (2011) Am J Med Genet , vol.155 , pp. 2584-2588
    • Tohyama, J.1    Yamamoto, T.2    Hosoki, K.3
  • 5
    • 0345824722 scopus 로고    scopus 로고
    • Foxg1 suppresses early cortical cell fate
    • DOI 10.1126/science.1090674
    • Hanashima C, Li SC, Shen L, Lai E, Fishell G: Foxg1 suppresses early cortical cell fate. Science (New York, NY) 2004; 303: 56-59. (Pubitemid 38055766)
    • (2004) Science , vol.303 , Issue.5654 , pp. 56-59
    • Hanashima, C.1    Li, S.C.2    Shen, L.3    Lai, E.4    Fishell, G.5
  • 6
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F, Hayek G, Rondinella D,et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89-93.
    • (2008) Am J Hum Genet , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 7
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    • Multiplex ligation-dependent probe amplification using a completely synthetic probe set
    • Stern RF, Roberts RG, Mann K, Yau SC, Berg J, Ogilvie CM: Multiplex ligation-dependent probe amplification using a completely synthetic probe set. Biotechniques 2004; 37: 399-405. (Pubitemid 39180913)
    • (2004) BioTechniques , vol.37 , Issue.3 , pp. 399-405
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  • 8
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    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.