Search Results - "ADELA MANSILLA, Maria"
-
1
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P
Published in European journal of human genetics : EJHG (01-06-2009)“…Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31-q32 at or near the…”
Get full text
Journal Article -
2
Discordant MZ Twins With Cleft Lip and Palate: A Model for Identifying Genes in Complex Traits
Published in Twin research and human genetics (01-02-2005)“…Monozygotic (MZ) twins may be discordant for complex traits due to differential environmental exposure in utero, epigenetic variability in imprinting, X…”
Get full text
Journal Article -
3
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
Published in Human molecular genetics (15-12-2009)“…Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide…”
Get full text
Journal Article -
4
FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish
Published in American journal of human genetics (11-02-2011)“…Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC…”
Get full text
Journal Article -
5
Identification of microdeletions in candidate genes for cleft lip and/or palate
Published in Birth defects research. A Clinical and molecular teratology (01-01-2009)“…BACKGROUND: Genome‐wide association studies are now used routinely to identify genes implicated in complex traits. The panels used for such analyses can detect…”
Get full text
Journal Article -
6
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
Published in Journal of medical genetics (01-02-2008)“…We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using…”
Get more information
Journal Article