메뉴 건너뛰기




Volumn 70, Issue 6, 2006, Pages 535-537

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly [5]

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLECORTIN; GENE PRODUCT; PROTEIN LIS1; UNCLASSIFIED DRUG;

EID: 33750974816     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00718.x     Document Type: Letter
Times cited : (4)

References (16)
  • 1
    • 0037390829 scopus 로고    scopus 로고
    • Lissencephaly and the molecular basis of neuronal migration
    • Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003: 12: R89-R96.
    • (2003) Hum Mol Genet , vol.12
    • Kato, M.1    Dobyns, W.B.2
  • 2
    • 20044383749 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: The key questions answered
    • Leventer RJ. Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: The key questions answered. J Child Neurol 2005: 20: 307-312.
    • (2005) J Child Neurol , vol.20 , pp. 307-312
    • Leventer, R.J.1
  • 3
    • 0346979678 scopus 로고    scopus 로고
    • Lissencephaly: The clinical and molecular genetic basis of diffuse malformations of neuronal migration
    • In: Barth P, ed. London: Mac Keith Press
    • Dobyns WB, Leventer RJ. Lissencephaly: The clinical and molecular genetic basis of diffuse malformations of neuronal migration. In: Barth P, ed. Disorders of neuronal migration, London: Mac Keith Press, 2003: 24-57.
    • (2003) Disorders of Neuronal Migration , pp. 24-57
    • Dobyns, W.B.1    Leventer, R.J.2
  • 4
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner O, Carrozzo R, Shen Y et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993: 364: 717-721.
    • (1993) Nature , vol.364 , pp. 717-721
    • Reiner, O.1    Carrozzo, R.2    Shen, Y.3
  • 5
    • 0038757833 scopus 로고    scopus 로고
    • 14-3-3epsilon is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome
    • Toyo-oka K, Shionoya A, Gambello MJ et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome. Nat Genet 2003: 34: 274-285.
    • (2003) Nat Genet , vol.34 , pp. 274-285
    • Toyo-oka, K.1    Shionoya, A.2    Gambello, M.J.3
  • 6
    • 17444444915 scopus 로고    scopus 로고
    • A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    • des Portes V, Pinard JM, Billuart P et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998: 92: 51-61.
    • (1998) Cell , vol.92 , pp. 51-61
    • des Portes, V.1    Pinard, J.M.2    Billuart, P.3
  • 7
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson JG, Allen KM, Fox JW et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998: 92: 63-72.
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3
  • 8
    • 0029008666 scopus 로고
    • The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons
    • Ogawa M, Miyata T, Nakajima K et al. The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons. Neuron 1995: 14: 899-912.
    • (1995) Neuron , vol.14 , pp. 899-912
    • Ogawa, M.1    Miyata, T.2    Nakajima, K.3
  • 9
    • 0036844387 scopus 로고    scopus 로고
    • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    • Kitamura K, Yanazawa M, Sugiyama N et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002: 32: 359-369.
    • (2002) Nat Genet , vol.32 , pp. 359-369
    • Kitamura, K.1    Yanazawa, M.2    Sugiyama, N.3
  • 10
    • 0029000061 scopus 로고
    • Lissencephaly and other malformations of cortical development: 1995 update
    • Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995: 26: 132-147.
    • (1995) Neuropediatrics , vol.26 , pp. 132-147
    • Dobyns, W.B.1    Truwit, C.L.2
  • 11
    • 20044362567 scopus 로고    scopus 로고
    • Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
    • Vermeesch JR, Melotte C, Froyen G et al. Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 2005: 53: 413-422.
    • (2005) J Histochem Cytochem , vol.53 , pp. 413-422
    • Vermeesch, J.R.1    Melotte, C.2    Froyen, G.3
  • 12
    • 33747054494 scopus 로고    scopus 로고
    • Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of the literature
    • Menten B, Maas N, Thienpont B et al. Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of the literature. J Med Genet 2006: 43: 625-633.
    • (2006) J Med Genet , vol.43 , pp. 625-633
    • Menten, B.1    Maas, N.2    Thienpont, B.3
  • 13
    • 0037385481 scopus 로고    scopus 로고
    • Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
    • Cardoso C, Leventer RJ, Ward HL et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003: 72: 918-930.
    • (2003) Am J Hum Genet , vol.72 , pp. 918-930
    • Cardoso, C.1    Leventer, R.J.2    Ward, H.L.3
  • 14
    • 0035859769 scopus 로고    scopus 로고
    • LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
    • Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 2001: 57: 416-422.
    • (2001) Neurology , vol.57 , pp. 416-422
    • Leventer, R.J.1    Cardoso, C.2    Ledbetter, D.H.3    Dobyns, W.B.4
  • 15
    • 17644397384 scopus 로고    scopus 로고
    • Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
    • Dhami P, Coffey AJ, Abbs S et al. Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005: 76: 750-762.
    • (2005) Am J Hum Genet , vol.76 , pp. 750-762
    • Dhami, P.1    Coffey, A.J.2    Abbs, S.3
  • 16
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten JP, McElgunn CJ, Waaijer R et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002: 30: e57.
    • (2002) Nucleic Acids Res , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.