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Volumn 20, Issue 6, 2012, Pages 596-597

Reply to Amor et al

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CHROMOSOME 14Q; CHROMOSOME DUPLICATION; COGNITIVE DEFECT; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EPILEPSY; FATHER; FOXG1 GENE; GENE; GENE DOSAGE; HEMIFACIAL MICROSOMIA; HUMAN; LETTER; MENTAL DEFICIENCY; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPEECH DISORDER;

EID: 84861188453     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.270     Document Type: Letter
Times cited : (4)

References (12)
  • 1
    • 78650067986 scopus 로고    scopus 로고
    • Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    • Brunetti-Pierri N, Paciorkowski AR, Ciccone R,et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2011; 19: 102-107.
    • (2011) Eur J Hum Genet , vol.19 , pp. 102-107
    • 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 A 2011; 155A: 2584-2588.
    • (2011) Am J Med Genet A , vol.155 A , pp. 2584-2588
    • Tohyama, J.1    Yamamoto, T.2    Hosoki, K.3
  • 6
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC et al: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3
  • 7
    • 66449113643 scopus 로고    scopus 로고
    • Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
    • Stankiewicz P, Sen P, Bhatt SS,et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84: 780-791.
    • (2009) Am J Hum Genet , vol.84 , pp. 780-791
    • Stankiewicz, P.1    Sen, P.2    Bhatt, S.S.3
  • 8
    • 67651205709 scopus 로고    scopus 로고
    • Disease-causing 7.4 kb Cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: Implications for mutation screening
    • D'haene B, Attanasio C, Beysen D,et al. Disease-causing 7.4 kb Cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet 2009; 5: e1000522.
    • (2009) PLoS Genet , vol.5
    • D'Haene, B.1    Attanasio, C.2    Beysen, D.3
  • 9
    • 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
  • 10
    • 70450265399 scopus 로고    scopus 로고
    • Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: Case report and review of literature
    • Jacob FD, Ramaswamy V, Andersen J, Bolduc FV: Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Gene 2009; 17: 1577-1581.
    • (2009) Eur J Hum Gene , vol.17 , pp. 1577-1581
    • Jacob, F.D.1    Ramaswamy, V.2    Andersen, J.3    Bolduc, F.V.4
  • 11
    • 0029009621 scopus 로고
    • Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres
    • Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E: Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron 1995; 14: 1141-1152.
    • (1995) Neuron , vol.14 , pp. 1141-1152
    • Xuan, S.1    Baptista, C.A.2    Balas, G.3    Tao, W.4    Soares, V.C.5    Lai, E.6
  • 12
    • 77951715882 scopus 로고    scopus 로고
    • Challenges in clinical interpretation of microduplications detected by array CGH analysis
    • Stankiewicz P, Pursley AN, Cheung SW: Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet A 2010; 152A: 1089-1100.
    • (2010) Am J Med Genet A , vol.152 A , pp. 1089-1100
    • Stankiewicz, P.1    Pursley, A.N.2    Cheung, S.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.