dc.creatorMarazita, Mary
dc.creatorMurray, Jeffrey
dc.creatorLidral, Andrew
dc.creatorArcos Burgos, Oscar Mauricio
dc.creatorCooper, Margaret
dc.creatorGoldstein, Toby
dc.creatorMaher, Brion
dc.creatorDaack Hirsch, Sandra
dc.creatorSchultz, Rebecca
dc.creatorMansilla, Maria Adela
dc.creatorField, Leigh
dc.creatorLiu, You-e
dc.creatorPrescott, Natalie
dc.creatorMalcolm, Sue
dc.creatorWinter, Robin
dc.creatorRay, Ajit
dc.creatorMoreno Uribe, Lina Moreno
dc.creatorValencia Ramírez, Luz Consuelo
dc.creatorNeiswanger, Katherine
dc.creatorWyszynski, Diego
dc.creatorBailey Wilson, Joan
dc.creatorAlbacha-Hejazi, Hasan
dc.creatorBeaty, Terri
dc.creatorMcIntosh, Iain
dc.creatorHetmanski, Jacqueline
dc.creatorTunçbilek, Gökhan
dc.creatorEdwards, Matthew
dc.creatorHarkin, Louise
dc.creatorScott, Rodney
dc.creatorRoddick, Laurence
dc.date2022-03-19T21:10:51Z
dc.date2022-03-19T21:10:51Z
dc.date2004
dc.date.accessioned2023-08-28T19:48:42Z
dc.date.available2023-08-28T19:48:42Z
dc.identifierMarazita, M., Murray, J., Lidral, A., Arcos, M., Cooper, M. , Goldstein, T., Maher, B., Daack, S., Schultz, R., Mansilla, M., Field, L., Liu, Y. E., Prescott, N., Malcolm, S., Winter, R., Ray, A., Moreno, L., Valencia, C., Neiswanger, K., Wyszynski, D., … Roddick, L. G. (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. American journal of human genetics, 75(2), 161–173. https://doi.org/10.1086/422475
dc.identifier0002-9297
dc.identifierhttp://hdl.handle.net/10495/26748
dc.identifier10.1086/422475
dc.identifier1537-6605
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8468936
dc.descriptionABSTRACT: Isolated or non syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score ). In addition, meta-analyses with the addition of results from 186 more [HLOD] p 6.6 families (six populations; 1,033 genotyped individuals) showed genome wide significance for 10 more regions, including another novel region at 2q32-35 ( ). These are the first genome wide significant linkage results P p .0004 ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.
dc.descriptionCOL0006769
dc.format13
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherCell Press
dc.publisherGenética Regeneración y Cáncer
dc.publisherBaltimore, Estados Unidos
dc.relationAm. J. Hum. Genet.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectCromosomas Humanos Par 2
dc.subjectChromosomes, Human, Pair 2
dc.subjectCromosomas Humanos Par 9
dc.subjectChromosomes, Human, Pair 9
dc.subjectLabio Leporino - genética
dc.subjectCleft Lip - genetics
dc.subjectFisura del Paladar - genética
dc.subjectCleft Palate - genetics
dc.subjectLigamiento Genético
dc.subjectGenetic Linkage
dc.subjectMarcadores Genéticos
dc.subjectGenetic Markers
dc.subjectPredisposición Genética a la Enfermedad
dc.subjectGenetic Predisposition to Disease
dc.titleMeta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_dcae04bc
dc.typehttps://purl.org/redcol/resource_type/ARTREV
dc.typeArtículo de revisión


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