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Volumn 56, Issue 7, 2011, Pages 541-544

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

Author keywords

chromosome 16p13.11; deletion; duplication; microarray based comparative genomic hybridization (aCGH); neuropsychiatric disorders

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; EPILEPSY; HUMAN; INTELLECTUAL IMPAIRMENT; MENTAL DEFICIENCY; MENTAL DISEASE; MICROARRAY ANALYSIS; NEUROLOGIC DISEASE; RISK FACTOR; SCHIZOPHRENIA; SEIZURE;

EID: 79960804293     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.42     Document Type: Article
Times cited : (90)

References (22)
  • 1
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: Crucibles of evolution, diversity and disease
    • DOI 10.1038/nrg1895, PII N1895
    • Bailey, J. A. & Eichler, E. E. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat. Rev. Genet 7, 552-564 (2006). (Pubitemid 43943572)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 2
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • Slavotinek, A. M. Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 124, 1-17 (2008).
    • (2008) Hum. Genet. , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 6
    • 65949097704 scopus 로고    scopus 로고
    • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    • Hannes, F. D., Sharp, A. J., Mefford, H. C., de Ravel, T., Ruivenkamp, C. A., Breuning, M. H., Fryns, J. P. et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J. Med. Genet. 46, 223-232 (2008).
    • (2008) J. Med. Genet. , vol.46 , pp. 223-232
    • Hannes, F.D.1    Sharp, A.J.2    Mefford, H.C.3    De Ravel, T.4    Ruivenkamp, C.A.5    Breuning, M.H.6    Fryns, J.P.7
  • 7
    • 57449111283 scopus 로고    scopus 로고
    • De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency
    • Law, L. W., Lau, T. K., Fung, T. Y., Leung, T. Y., Wang, C. C. & Choy, K. W. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency. BJOG 116, 339-343 (2009).
    • (2009) BJOG , vol.116 , pp. 339-343
    • Law, L.W.1    Lau, T.K.2    Fung, T.Y.3    Leung, T.Y.4    Wang, C.C.5    Choy, K.W.6
  • 9
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel, C. G., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C. et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010).
    • (2010) Brain , vol.133 , pp. 23-32
    • Kovel, G.D.C.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 10
    • 69749104320 scopus 로고    scopus 로고
    • A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
    • Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N. et al. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res. 19, 1579-1585 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1579-1585
    • Mefford, H.C.1    Cooper, G.M.2    Zerr, T.3    Smith, J.D.4    Baker, C.5    Shafer, N.6
  • 11
    • 77952096810 scopus 로고    scopus 로고
    • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    • Heinzen, E. L., Radtke, R. A., Urban, T. J., Cavalleri, G. L., Depondt, C., Need, A. C. et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am. J. Hum. Genet. 86, 707-718 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 707-718
    • Heinzen, E.L.1    Radtke, R.A.2    Urban, T.J.3    Cavalleri, G.L.4    Depondt, C.5    Need, A.C.6
  • 13
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C. et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6, e1000962 (2010).
    • (2010) PLoS Genet. , vol.6
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3    Von Spiczak, S.4    Buysse, K.5    Baker, C.6
  • 14
    • 78049303903 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis
    • Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R. et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 376, 1401-1408 (2010).
    • (2010) Lancet , vol.376 , pp. 1401-1408
    • Williams, N.M.1    Zaharieva, I.2    Martin, A.3    Langley, K.4    Mantripragada, K.5    Fossdal, R.6
  • 15
    • 69849085073 scopus 로고    scopus 로고
    • Validation of the Agilent 244 K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis
    • Yu, S., Bittel, D. C., Kibiryeva, N., Zwick, D. L. & Cooley, L. D. Validation of the Agilent 244 K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am. J. Clin. Pathol. 132, 349-360 (2009).
    • (2009) Am. J. Clin. Pathol. , vol.132 , pp. 349-360
    • Yu, S.1    Bittel, D.C.2    Kibiryeva, N.3    Zwick, D.L.4    Cooley, L.D.5
  • 16
    • 75649134266 scopus 로고    scopus 로고
    • Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization
    • Yu, S., Kielt, M., Stegner, A. L., Kibiryeva, N., Bittel, D. C. & Cooley, L. D. Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet. Test Mol. Biomarkers 13, 751-760 (2009).
    • (2009) Genet. Test Mol. Biomarkers , vol.13 , pp. 751-760
    • Yu, S.1    Kielt, M.2    Stegner, A.L.3    Kibiryeva, N.4    Bittel, D.C.5    Cooley, L.D.6
  • 17
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D. et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161 (2009).
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3    Girirajan, S.4    Li, J.5    Absher, D.6
  • 18
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P. et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum. Mol. Genet. 18, 1497-1503 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1497-1503
    • Kirov, G.1    Grozeva, D.2    Norton, N.3    Ivanov, D.4    Mantripragada, K.K.5    Holmans, P.6
  • 19
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • ISC
    • ISC. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-241 (2008).
    • (2008) Nature , vol.455 , pp. 237-241
  • 20
    • 66349120139 scopus 로고    scopus 로고
    • Mitotic control of kinetochore-associated dynein and spindle orientation by human spindly
    • Chan, Y. W., Fava, L. L., Uldschmid, A., Schmitz, M. H., Gerlich, D. W., Nigg, E. A. et al. Mitotic control of kinetochore-associated dynein and spindle orientation by human spindly. J. Cell Biol. 185, 859-874 (2009).
    • (2009) J. Cell Biol. , vol.185 , pp. 859-874
    • Chan, Y.W.1    Fava, L.L.2    Uldschmid, A.3    Schmitz, M.H.4    Gerlich, D.W.5    Nigg, E.A.6
  • 21
    • 5144222593 scopus 로고    scopus 로고
    • Mitotic spindle regulation by Nde1 controls cerebral cortical size
    • DOI 10.1016/j.neuron.2004.09.023, PII S0896627304006117
    • Feng, Y. & Walsh, C. A. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 44, 279-293 (2004). (Pubitemid 39346252)
    • (2004) Neuron , vol.44 , Issue.2 , pp. 279-293
    • Feng, Y.1    Walsh, C.A.2
  • 22
    • 48249085262 scopus 로고    scopus 로고
    • Lis1- Nde1-dependent neuronal fate control determines cerebral cortical size and lamination
    • Pawlisz, A. S., Mutch, C., Wynshaw-Boris, A., Chenn, A., Walsh, C. A. & Feng, Y. Lis1- Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum. Mol. Genet. 17, 2441-2455 (2008).
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2441-2455
    • Pawlisz, A.S.1    Mutch, C.2    Wynshaw-Boris, A.3    Chenn, A.4    Walsh, C.A.5    Feng, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.