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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

dc.creatorMcGrath, L.M.
dc.creatorYu, D.M.
dc.creatorMarshall, C.
dc.creatorDavis, L.K.
dc.creatorThiruvahindrapuram, B.
dc.creatorLi, B.B.
dc.creatorCappi, C.
dc.creatorGerber, G.
dc.creatorWolf, A.
dc.creatorSchroeder, F.A.
dc.creatorOsiecki, L.
dc.creatorO'Dushlaine, C.
dc.creatorKirby, A.
dc.creatorIllmann, C.
dc.creatorHaddad, S.
dc.creatorGallagher, P.
dc.creatorFagerness, J.A.
dc.creatorBarr, C.L.
dc.creatorBellodi, L.
dc.creatorBenarroch, F.
dc.creatorBienvenu, O.J.
dc.creatorBlack, D.W.
dc.creatorBloch, M.H.
dc.creatorBruun, R.D.
dc.creatorBudman, C.L.
dc.creatorCamarena, B.
dc.creatorCath, D.C.
dc.creatorCavallini, M.C.
dc.creatorChouinard, S.
dc.creatorCoric, V.
dc.creatorCullen, B.
dc.creatorDelorme, R.
dc.creatorDenys, D.
dc.creatorDerks, E.M.
dc.creatorDion, Y.
dc.creatorRosario, M.C.
dc.creatorEapen, V.
dc.creatorEvans, P.
dc.creatorFalkai, P.
dc.creatorFernandez, T.V.
dc.creatorGarrido, H.
dc.creatorGeller, D.
dc.creatorGrabe, H.J.
dc.creatorGrados, M.A.
dc.creatorGreenberg, B.D.
dc.creatorGross-Tsur, V.
dc.creatorGruenblatt, E.
dc.creatorHeiman, G.A.
dc.creatorHemmings, S.M.J.
dc.creatorHerrera, L. D.
dc.creatorHounie, A.G.
dc.creatorJankovic, J.
dc.creatorKennedy, J.L.
dc.creatorKing, R.A.
dc.creatorKurlan, R.
dc.creatorLanzagorta, N.
dc.creatorLeboyer, M.
dc.creatorLeckman, J.F.
dc.creatorLennertz, L.
dc.creatorLochner, C.
dc.creatorLowe, T.L.
dc.creatorLyon, G.J.
dc.creatorMacciardi, F.
dc.creatorMaier, W.
dc.creatorMcCracken, J.T.
dc.creatorMcMahon, W.
dc.creatorMurphy, D.L.
dc.creatorNaarden, A.L.
dc.creatorNeale, B.M.
dc.creatorNurmi, E.
dc.creatorPakstis, A.J.
dc.creatorPato, M.T.
dc.creatorPato, C.N.
dc.creatorPiacentini, J.
dc.creatorPittenger, C.
dc.creatorPollak, Y.
dc.creatorReus, V. I.
dc.creatorRichter, M.A.
dc.creatorRiddle, M.
dc.creatorRobertson, M.M.
dc.creatorRosenberg, D.
dc.creatorRouleau, G.A.
dc.creatorRuhrmann, S.
dc.creatorSampaio, A.S.
dc.creatorSamuels, J.
dc.creatorSandor, P.
dc.creatorSheppard, B.
dc.creatorSinger, H.S.
dc.creatorSmit, J.H.
dc.creatorStein, D. J.
dc.creatorTischrield, J.A.
dc.creatorVallada, H.
dc.creatorVeenstra-VanderWeele, J.
dc.creatorWalitza, S.
dc.creatorWang, Y.
dc.creatorWendfand, J.R.
dc.creatorShugart, Y.Y.
dc.creatorMiguel, E.C.
dc.creatorNicolini, H.
dc.creatorOostra, B.A.
dc.creatorMoessner, R.
dc.creatorWagner, M.
dc.creatorRuiz-Linares, A.
dc.creatorHeutink, P.
dc.creatorNestadt, G.
dc.creatorFreimer, N.
dc.creatorPetryshen, T.
dc.creatorPosthuma, D.
dc.creatorJenike, M.A.
dc.creatorCox, N.J.
dc.creatorHanna, G.L.
dc.creatorBrentani, H.
dc.creatorScherer, S.W.
dc.creatorArnold, P.D.
dc.creatorStewart, S.E.
dc.creatorMathews, C.A.
dc.creatorKnowles, J.A.
dc.creatorCook, E.H.
dc.creatorPauls, D.L.
dc.creatorWang, K.
dc.creatorScharf, J.M.
dc.date.accessioned2017-06-29T03:43:46Z
dc.date.available2017-06-29T03:43:46Z
dc.date.issued2014es_ES
dc.identifier2608es_ES
dc.identifier.issn0890-8567es_ES
dc.identifier.urihttp://repositorio.inprf.gob.mx/handle/123456789/4457
dc.identifier.urihttps://doi.org/10.1016/j.jaac.2014.04.022es_ES
dc.language.isoenges_ES
dc.relation53(8) 910-919p.es_ES
dc.relationversión del editores_ES
dc.rightsacceso cerradoes_ES
dc.titleCopy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder studyes_ES
dc.typeartículoes_ES
dc.contributor.affiliationMassachusetts General Hospital, Boston; American University, Washington, DCes_ES
dc.contributor.emailischarf@partners.orges_ES
dc.relation.jnabreviadoJ AM ACAD CHILD ADOLESC PSYCHIATRYes_ES
dc.relation.journalJournal of the American Academy of Child and Adolescent Psychiatryes_ES
dc.identifier.placeEstados Unidoses_ES
dc.date.published2014es_ES
dc.identifier.organizacionInstituto Nacional de Psiquiatría Ramón de la Fuente Muñizes_ES
dc.identifier.eissn1527-5418es_ES
dc.identifier.doi10.1016/j.jaac.2014.04.022es_ES
dc.description.monthAgoes_ES
dc.description.abstractotrodiomaOBJECTIVE:  Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. METHOD:  The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. RESULTS:  Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). CONCLUSION:  Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.es_ES
dc.subject.koTourette Syndromees_ES
dc.subject.koObsessive-Compulsive Disorderes_ES
dc.subject.koCopy Number Variationes_ES
dc.subject.koGeneticses_ES
dc.subject.ko16p13.11es_ES
dc.subject.koRare Chromosomal Deletionses_ES
dc.subject.koGenome-Wide Associationes_ES
dc.subject.koDe-Novo Cnvses_ES
dc.subject.koDevelopmental-Disabilitieses_ES
dc.subject.ko16p13.11 Predisposees_ES
dc.subject.koVariantses_ES
dc.subject.koDuplicationses_ES
dc.subject.koAutismes_ES
dc.subject.koSchizophreniaes_ES
dc.subject.koGeneticses_ES
dc.subject.koPsychologyes_ES
dc.subject.koPediatricses_ES
dc.subject.koPsychiatryes_ES


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