1. Repositorio Institucional Universidad de Antioquia
  2. Investigaciones
  3. Instituto de Investigaciones Médicas
  4. Artículos de Revista en Ciencias Médicas
Por favor, use este identificador para citar o enlazar este ítem: https://hdl.handle.net/10495/32973
Registro completo de metadatos
Campo DC Valor Lengua/Idioma
dc.contributor.authorCaro Gómez, María Antonieta-
dc.contributor.authorCarrizosa Moog, Jaime-
dc.contributor.authorTejada Moreno, Johanna Alexandra-
dc.contributor.authorCabrera Hemer, Dagoberto Nicanor-
dc.contributor.authorBedoya Berrío, Gabriel de Jesús-
dc.contributor.authorRuiz Linares, Andrés-
dc.contributor.authorFranco, Andrés-
dc.contributor.authorGómez Castillo, Christhian-
dc.contributor.authorCornejo Ochoa, José William-
dc.contributor.authorPineda Trujillo, Nicolás Guillermo-
dc.date.accessioned2022-12-25T18:17:34Z-
dc.date.available2022-12-25T18:17:34Z-
dc.date.issued2013-
dc.identifier.citationCaro-Gomez MA, Carrizosa J, Moreno JT, Cabrera D, Bedoya G, Ruiz-Linares A, Franco A, Gomez-Castillo C, Cornejo W, Pineda-Trujillo N. Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family. Epileptic Disord. 2013 Jun;15(2):128-31. doi: 10.1684/epd.2013.0570.spa
dc.identifier.issn1294-9361-
dc.identifier.urihttps://hdl.handle.net/10495/32973-
dc.description.abstractABSTRACT: Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted. A maximum LOD score of 0.75 at marker D8S533 for FEB1 at a recombination fraction ( ) of 0 and a segregating haplotype were identified. FEB1 was the first locus to be associated with FS and this is the second report to describe this association. Two genes in this region, CRH and DEPDC2, are good putative candidate genes that may play a role in FS and/or GEFS plus.spa
dc.format.extent4spa
dc.format.mimetypeapplication/pdfspa
dc.language.isoengspa
dc.publisherJohn Libbey Eurotextspa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersionspa
dc.rightsinfo:eu-repo/semantics/openAccessspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/*
dc.titleSegregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian familyspa
dc.typeinfo:eu-repo/semantics/articlespa
dc.publisher.groupGenética Molecular (GENMOL)spa
dc.publisher.groupGrupo Mapeo Genéticospa
dc.identifier.doi10.1684/epd.2013.0570-
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
dc.rights.accessrightshttp://purl.org/coar/access_right/c_abf2spa
dc.identifier.eissn1950-6945-
oaire.citationtitleEpileptic Disordersspa
oaire.citationstartpage128spa
oaire.citationendpage131spa
oaire.citationvolume15spa
oaire.citationissue2spa
dc.rights.creativecommonshttps://creativecommons.org/licenses/by-nc-nd/4.0/spa
dc.publisher.placeMontrouge, Franciaspa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.redcolhttps://purl.org/redcol/resource_type/ARTspa
dc.type.localArtículo de investigaciónspa
dc.subject.decsPreescolar-
dc.subject.decsChild, Preschool-
dc.subject.decsCromosomas Humanos Par 8-
dc.subject.decsChromosomes, Human, Pair 8-
dc.subject.decsEpilepsia Generalizada-
dc.subject.decsEpilepsy, Generalized-
dc.subject.decsPredisposición Genética a la Enfermedad-
dc.subject.decsGenetic Predisposition to Disease-
dc.subject.decsHaplotipos-
dc.subject.decsHaplotypes-
dc.subject.decsEscala de Lod-
dc.subject.decsLod Score-
dc.subject.decsConvulsiones Febriles-
dc.subject.decsSeizures, Febrile-
dc.subject.decsRepeticiones de Microsatélite - genética-
dc.subject.decsMicrosatellite Repeats - genetics-
dc.subject.lembNiños-
dc.subject.lembChildren-
dc.subject.proposalAutosomal dominant epilepsy with febrile seizures plusspa
dc.subject.proposalFEB1spa
dc.description.researchgroupidCOL0057491spa
dc.description.researchgroupidCOL0006723spa
dc.relation.ispartofjournalabbrevEpileptic Disord.spa
Aparece en las colecciones: Artículos de Revista en Ciencias Médicas

Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
BedoyaGabriel_2013_SegregationHaplotypeEncompassing.pdfArtículo de investigación186 kBAdobe PDFVisualizar/Abrir
Mostrar el registro sencillo del ítem


Este ítem está sujeto a una licencia Creative Commons Licencia Creative Commons Creative Commons