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Volumn 20, Issue 2, 2012, Pages 176-179

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

Author keywords

1q43 44 deletion; agenesis of corpus callosum; AKT3; CEP170; corpus callosal abnormalities; ZNF238

Indexed keywords

ADOLESCENT; AKT3 GENE; ARTICLE; CEP170 GENE; CHILD; CHROMOSOME 1Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; FEMALE; GENE; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SDCCAG8 GENE; ZNF238 GENE;

EID: 84855806403     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.171     Document Type: Article
Times cited : (45)

References (21)
  • 1
    • 45249089227 scopus 로고    scopus 로고
    • Clinical and molecular characteristics of 1qter microdeletion syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis
    • van Bon BWM, Koolen DA, Borgatti R et al: Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet 2008; 45: 346.
    • (2008) J Med Genet , vol.45 , pp. 346
    • Van Bon, B.W.M.1    Koolen, D.A.2    Borgatti, R.3
  • 4
    • 3342884299 scopus 로고    scopus 로고
    • Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
    • Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M: Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A 2004; 128A: 352-363. (Pubitemid 38988636)
    • (2004) American Journal of Medical Genetics , vol.128 A , Issue.4 , pp. 352-363
    • Roberts, A.E.1    Cox, G.F.2    Kimonis, V.3    Lamb, A.4    Irons, M.5
  • 6
    • 77954387335 scopus 로고    scopus 로고
    • Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene
    • Caliebe A, Kroes HY, van der Smagt JJ et al: Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 2010; 53: 179-185.
    • (2010) Eur J Med Genet , vol.53 , pp. 179-185
    • Caliebe, A.1    Kroes, H.Y.2    Van Der Smagt, J.J.3
  • 7
    • 77949541093 scopus 로고    scopus 로고
    • Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44
    • Orellana C, Rosello M, Monfort S et al: Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44. Cytogenet Genome Res 2009; 127: 5-8.
    • (2009) Cytogenet Genome Res , vol.127 , pp. 5-8
    • Orellana, C.1    Rosello, M.2    Monfort, S.3
  • 8
    • 34547786100 scopus 로고    scopus 로고
    • Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
    • Boland E, Clayton-Smith J, Woo VG et al: Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007; 81: 292.
    • (2007) Am J Hum Genet , vol.81 , pp. 292
    • Boland, E.1    Clayton-Smith, J.2    Woo, V.G.3
  • 10
    • 56649124721 scopus 로고    scopus 로고
    • AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions
    • Poot M, Kroes HY, Hochstenbach R: AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions. Eur J Med Genet 2008; 51: 689.
    • (2008) Eur J Med Genet , vol.51 , pp. 689
    • Poot, M.1    Kroes, H.Y.2    Hochstenbach, R.3
  • 11
    • 59149099919 scopus 로고    scopus 로고
    • Increased LIS1 expression affects human and mouse brain development
    • Bi W, Sapir T, Shchelochkov OA et al: Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009; 41: 168-177.
    • (2009) Nat Genet , vol.41 , pp. 168-177
    • Bi, W.1    Sapir, T.2    Shchelochkov, O.A.3
  • 12
    • 70350179748 scopus 로고    scopus 로고
    • Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
    • El-Hattab AW, Smolarek TA, Walker ME et al: Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet 2009; 126: 589-602.
    • (2009) Hum Genet , vol.126 , pp. 589-602
    • El-Hattab, A.W.1    Smolarek, T.A.2    Walker, M.E.3
  • 17
    • 77955068270 scopus 로고    scopus 로고
    • Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4
    • Guernsey DL, Jiang H, Hussin J et al: Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 2010; 87: 40-51.
    • (2010) Am J Hum Genet , vol.87 , pp. 40-51
    • Guernsey, D.L.1    Jiang, H.2    Hussin, J.3
  • 19
    • 77955408770 scopus 로고    scopus 로고
    • Centrosome motility is essential for initial axon formation in the neocortex
    • de Anda FC, Meletis K, Ge X, Rei D, Tsai LH: Centrosome motility is essential for initial axon formation in the neocortex. J Neurosci 2010; 30: 10391-10406.
    • (2010) J Neurosci , vol.30 , pp. 10391-10406
    • De Anda, F.C.1    Meletis, K.2    Ge, X.3    Rei, D.4    Tsai, L.H.5
  • 21
    • 67549091231 scopus 로고    scopus 로고
    • The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex
    • Okado H, Ohtaka-Maruyama C, Sugitani Y et al: The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. Dev Biol 2009; 331: 140-151.
    • (2009) Dev Biol , vol.331 , pp. 140-151
    • Okado, H.1    Ohtaka-Maruyama, C.2    Sugitani, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.