dc.creator | Marazita, Mary | |
dc.creator | Murray, Jeffrey | |
dc.creator | Lidral, Andrew | |
dc.creator | Arcos Burgos, Oscar Mauricio | |
dc.creator | Cooper, Margaret | |
dc.creator | Goldstein, Toby | |
dc.creator | Maher, Brion | |
dc.creator | Daack Hirsch, Sandra | |
dc.creator | Schultz, Rebecca | |
dc.creator | Mansilla, Maria Adela | |
dc.creator | Field, Leigh | |
dc.creator | Liu, You-e | |
dc.creator | Prescott, Natalie | |
dc.creator | Malcolm, Sue | |
dc.creator | Winter, Robin | |
dc.creator | Ray, Ajit | |
dc.creator | Moreno Uribe, Lina Moreno | |
dc.creator | Valencia Ramírez, Luz Consuelo | |
dc.creator | Neiswanger, Katherine | |
dc.creator | Wyszynski, Diego | |
dc.creator | Bailey Wilson, Joan | |
dc.creator | Albacha-Hejazi, Hasan | |
dc.creator | Beaty, Terri | |
dc.creator | McIntosh, Iain | |
dc.creator | Hetmanski, Jacqueline | |
dc.creator | Tunçbilek, Gökhan | |
dc.creator | Edwards, Matthew | |
dc.creator | Harkin, Louise | |
dc.creator | Scott, Rodney | |
dc.creator | Roddick, Laurence | |
dc.date | 2022-03-19T21:10:51Z | |
dc.date | 2022-03-19T21:10:51Z | |
dc.date | 2004 | |
dc.date.accessioned | 2023-08-28T19:48:42Z | |
dc.date.available | 2023-08-28T19:48:42Z | |
dc.identifier | Marazita, 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.identifier | 0002-9297 | |
dc.identifier | http://hdl.handle.net/10495/26748 | |
dc.identifier | 10.1086/422475 | |
dc.identifier | 1537-6605 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8468936 | |
dc.description | ABSTRACT: 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.description | COL0006769 | |
dc.format | 13 | |
dc.format | application/pdf | |
dc.format | application/pdf | |
dc.language | eng | |
dc.publisher | Cell Press | |
dc.publisher | Genética Regeneración y Cáncer | |
dc.publisher | Baltimore, Estados Unidos | |
dc.relation | Am. J. Hum. Genet. | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/2.5/co/ | |
dc.rights | http://purl.org/coar/access_right/c_abf2 | |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject | Cromosomas Humanos Par 2 | |
dc.subject | Chromosomes, Human, Pair 2 | |
dc.subject | Cromosomas Humanos Par 9 | |
dc.subject | Chromosomes, Human, Pair 9 | |
dc.subject | Labio Leporino - genética | |
dc.subject | Cleft Lip - genetics | |
dc.subject | Fisura del Paladar - genética | |
dc.subject | Cleft Palate - genetics | |
dc.subject | Ligamiento Genético | |
dc.subject | Genetic Linkage | |
dc.subject | Marcadores Genéticos | |
dc.subject | Genetic Markers | |
dc.subject | Predisposición Genética a la Enfermedad | |
dc.subject | Genetic Predisposition to Disease | |
dc.title | Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | http://purl.org/coar/resource_type/c_dcae04bc | |
dc.type | https://purl.org/redcol/resource_type/ARTREV | |
dc.type | Artículo de revisión | |