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Items: 1 to 20 of 242

1.

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.

BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.

2.

Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.

Takahashi S, Suzuki T, Nakamura-Tomizuka S, Osaki K, Sotome Y, Sagawa T, Uchiyama M.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):229-35. doi: 10.1002/ajmg.b.32307. Epub 2015 Mar 16.

PMID:
25776014
3.

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.

Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):3029-3039. doi: 10.1210/jc.2017-00565.

PMID:
28605459
4.

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.

Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N, Kirov G; WTCCC.

Schizophr Res. 2012 Mar;135(1-3):1-7. doi: 10.1016/j.schres.2011.11.004. Epub 2011 Nov 29.

5.

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenço NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, O'Halloran E, Magalhães TR, Fett-Conte AC, Passos-Bueno MR.

PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014.

6.

Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia.

Liao HM, Chao YL, Huang AL, Cheng MC, Chen YJ, Lee KF, Fang JS, Hsu CH, Chen CH.

Schizophr Res. 2012 Aug;139(1-3):229-36. doi: 10.1016/j.schres.2012.05.015. Epub 2012 Jun 7.

PMID:
22682706
7.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, Andrieux J, Vassos E, Ogilvie CM, Curran S, Collier DA.

PLoS One. 2013 Apr 18;8(4):e61365. doi: 10.1371/journal.pone.0061365. Print 2013.

8.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

9.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.

Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20.

10.

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.

Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Kendler KS, Freedman R, Dudbridge F, Pe'er I, Hakonarson H, Bergen SE, Fanous AH, Holmans PA, Gejman PV.

Am J Psychiatry. 2011 Mar;168(3):302-16. doi: 10.1176/appi.ajp.2010.10060876. Epub 2011 Feb 1.

11.

Epilepsy and the new cytogenetics.

Mulley JC, Mefford HC.

Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 2011 Jan 26. Review.

12.

Penetrance for copy number variants associated with schizophrenia.

Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, Lewis CM.

Hum Mol Genet. 2010 Sep 1;19(17):3477-81. doi: 10.1093/hmg/ddq259. Epub 2010 Jun 29.

PMID:
20587603
13.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
14.

CNVs in neuropsychiatric disorders.

Kirov G.

Hum Mol Genet. 2015 Oct 15;24(R1):R45-9. doi: 10.1093/hmg/ddv253. Epub 2015 Jun 30. Review.

PMID:
26130694
15.

Association testing of copy number variants in schizophrenia and autism spectrum disorders.

Crespi BJ, Crofts HJ.

J Neurodev Disord. 2012 May 30;4(1):15. doi: 10.1186/1866-1955-4-15.

16.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

17.

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

Derks EM, Ayub M, Chambert K, Del Favero J, Johnstone M, MacGregor S, Maclean A, McKechanie AG, McRae AF, Moran JL, Pickard BS, Purcell S, Sklar P, StClair DM, Wray NR, Visscher PM, Blackwood DH.

Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):847-54. doi: 10.1002/ajmg.b.32189. Epub 2013 Sep 25.

PMID:
24115684
18.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

19.

Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.

Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF.

Mol Psychiatry. 2013 Nov;18(11):1178-84. doi: 10.1038/mp.2013.98. Epub 2013 Aug 13.

20.

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N.

Eur J Hum Genet. 2016 Jan;25(1):66-72. doi: 10.1038/ejhg.2016.107. Epub 2016 Sep 21.

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