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Volumn 51, Issue 5, 2014, Pages 730-733

3p interstitial deletion including prickle2 in identical twins with autistic features

Author keywords

3p14 microdeletion; autistic features; identical twins; PRICKLE2

Indexed keywords

ARTICLE; AUTISM; CAMPTODACTYLY; CASE REPORT; CHROMOSOME; CHROMOSOME 3P14; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE COURSE; EPICANTHUS; EYEBROW; FACE DYSMORPHIA; FACIAL EXPRESSION; FOREHEAD; GENE; GENE DELETION; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; INTESTINE MALROTATION; MALE; MICROGNATHIA; MONOZYGOTIC TWINS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHILTRUM; PHYSICAL EXAMINATION; PREMATURE FETUS MEMBRANE RUPTURE; PRICKLE2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOTYPY; CHROMOSOME 3; GENETICS; INFANT;

EID: 84908300420     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.07.025     Document Type: Article
Times cited : (15)

References (11)
  • 1
    • 79851516501 scopus 로고    scopus 로고
    • Mutations in prickle orthologs cause seizures in flies, mice, and humans
    • H. Tao, J.R. Manak, and L. Sowers Mutations in prickle orthologs cause seizures in flies, mice, and humans Am J Hum Genet 88 2011 138 149
    • (2011) Am J Hum Genet , vol.88 , pp. 138-149
    • Tao, H.1    Manak, J.R.2    Sowers, L.3
  • 2
    • 84864187175 scopus 로고    scopus 로고
    • 3p interstitial deletion: Novel case report and review
    • A.C. Ţuţulan-Cunitə, S.M. Papuc, and A. Arghir 3p interstitial deletion: novel case report and review J Child Neurol 27 2012 1062 1066
    • (2012) J Child Neurol , vol.27 , pp. 1062-1066
    • Ţuţulan-Cunitə, A.C.1    Papuc, S.M.2    Arghir, A.3
  • 3
    • 84884983888 scopus 로고    scopus 로고
    • 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review
    • E.M.C. Schwaibold, B. Zoll, and P. Burfeind 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review Am J Med Genet A 161 2013 2634 2640
    • (2013) Am J Med Genet A , vol.161 , pp. 2634-2640
    • Schwaibold, E.M.C.1    Zoll, B.2    Burfeind, P.3
  • 4
    • 84879463928 scopus 로고    scopus 로고
    • Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients
    • S. Shimada, N. Okamoto, and K. Hirasawa Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients Am J Med Genet A 161A 2013 1779 1785
    • (2013) Am J Med Genet A , vol.161 A , pp. 1779-1785
    • Shimada, S.1    Okamoto, N.2    Hirasawa, K.3
  • 5
    • 34548684134 scopus 로고    scopus 로고
    • Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth
    • H. Okuda, S. Miyata, Y. Mori, and M. Tohyama Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth FEBS Lett 581 2007 4754 4760
    • (2007) FEBS Lett , vol.581 , pp. 4754-4760
    • Okuda, H.1    Miyata, S.2    Mori, Y.3    Tohyama, M.4
  • 6
    • 84884674613 scopus 로고    scopus 로고
    • Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction
    • L.P. Sowers, L. Loo, and Y. Wu Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction Mol Psychiatry 18 2013 1077 1089
    • (2013) Mol Psychiatry , vol.18 , pp. 1077-1089
    • Sowers, L.P.1    Loo, L.2    Wu, Y.3
  • 7
    • 85029432672 scopus 로고
    • Spinocerebellar ataxia type 7
    • Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, eds [Internet]. Seattle: University of Washington, Seattle Updated December 20, 2012
    • Garden G. Spinocerebellar ataxia type 7. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, eds. GeneReviews [Internet]. Seattle: University of Washington, Seattle; 1993-2013. Updated December 20, 2012.
    • (1993) GeneReviews
    • Garden, G.1
  • 8
    • 84862786888 scopus 로고    scopus 로고
    • MAGI1 copy number variation in bipolar affective disorder and schizophrenia
    • R. Karlsson, L. Graae, and M. Lekman MAGI1 copy number variation in bipolar affective disorder and schizophrenia Biol Psychiatry 71 2012 922 930
    • (2012) Biol Psychiatry , vol.71 , pp. 922-930
    • Karlsson, R.1    Graae, L.2    Lekman, M.3
  • 9
    • 84864286265 scopus 로고    scopus 로고
    • MAGI-1 modulates AMPA receptor synaptic localization and behavioral plasticity in response to prior experience
    • L. Emtage, H. Chang, R. Tiver, and C. Rongo MAGI-1 modulates AMPA receptor synaptic localization and behavioral plasticity in response to prior experience PLoS One 4 2009 e4613
    • (2009) PLoS One , vol.4 , pp. 4613
    • Emtage, L.1    Chang, H.2    Tiver, R.3    Rongo, C.4
  • 10
    • 49649116698 scopus 로고    scopus 로고
    • The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex
    • B. Chen, S.S. Wang, A.M. Hattox, H. Rayburn, S.B. Nelson, and S.K. McConnell The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex Proc Natl Acad Sci U S A 105 2008 11382 11387
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 11382-11387
    • Chen, B.1    Wang, S.S.2    Hattox, A.M.3    Rayburn, H.4    Nelson, S.B.5    McConnell, S.K.6
  • 11
    • 0037078226 scopus 로고    scopus 로고
    • Synaptic vesicle protein synaptoporin is differently expressed by subpopulations of mouse hippocampal neurons
    • I. Singec, R. Knoth, and M. Ditter Synaptic vesicle protein synaptoporin is differently expressed by subpopulations of mouse hippocampal neurons J Comp Neurol 452 2002 139 153
    • (2002) J Comp Neurol , vol.452 , pp. 139-153
    • Singec, I.1    Knoth, R.2    Ditter, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.