Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

ABSTRACT: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods: We performed linkage analyses of a 10 cM genome scan in 820 multip...

Full description

Autores:
Valencia Ramírez, Luz Consuelo
Arcos Burgos, Oscar Mauricio
Murray, Jeffrey
Field, Leigh
Maher, Brion
Goldstein McHenry, Toby
Cooper, Margaret E.
Govil, Manika
Daack Hirsch, Sandra
Riley, Bridget
Jugessur, Astanand
Felix, Temis
Morene, Lina
Mansilla, Adela
Vieira, Alexandre R.
Doheny, Kim
Pugh, Elizabeth
Maritza, Mary
Lidral, Andrew C.
Tipo de recurso:
Article of investigation
Fecha de publicación:
2009
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/41528
Acceso en línea:
https://hdl.handle.net/10495/41528
Palabra clave:
Mapeo Cromosómico
Chromosome Mapping
Cromosomas Humanos - genética
Chromosomes, Human - genetics
Labio Leporino - genética
Cleft Lip - genetics
Fisura del Paladar - genética
Cleft Palate - genetics
Ligamiento Genético
Genetic Linkage
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Genoma Humano
Genome, Human
Estudio de Asociación del Genoma Completo
Genome-Wide Association Study
Fenotipo
Phenotype
Polimorfismo de Nucleótido Simple
Polymorphism, Single Nucleotide
https://id.nlm.nih.gov/mesh/D002874
https://id.nlm.nih.gov/mesh/D002877
https://id.nlm.nih.gov/mesh/D002971
https://id.nlm.nih.gov/mesh/D002972
https://id.nlm.nih.gov/mesh/D008040
https://id.nlm.nih.gov/mesh/D020022
https://id.nlm.nih.gov/mesh/D015894
https://id.nlm.nih.gov/mesh/D055106
https://id.nlm.nih.gov/mesh/D010641
https://id.nlm.nih.gov/mesh/D020641
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc/2.5/co/