Orofacial clefts embryology, classification, epidemiology, and genetics

G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

Genetics of nonsyndromic orofacial clefts

F Rahimov, A Jugessur… - The Cleft palate …, 2012 - journals.sagepub.com
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts
are the most common craniofacial birth defects in humans. Like other complex disorders …

A genome-wide association study identifies five loci influencing facial morphology in Europeans

F Liu, F Van Der Lijn, C Schurmann, G Zhu… - 2012 - journals.plos.org
Inter-individual variation in facial shape is one of the most noticeable phenotypes in
humans, and it is clearly under genetic regulation; however, almost nothing is known about …

p63-associated disorders

T Rinne, HG Brunner, H van Bokhoven - Cell cycle, 2007 - Taylor & Francis
Heterozygous mutations in the transcription factor gene p63 are causative for several
syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key …

[HTML][HTML] Molecular control of secondary palate development

A Gritli-Linde - Developmental biology, 2007 - Elsevier
Compared with the embryonic development of other organs, development of the secondary
palate is seemingly simple. However, each step of palatogenesis, from initiation until …

The evolution of human genetic studies of cleft lip and cleft palate

ML Marazita - Annual review of genomics and human genetics, 2012 - annualreviews.org
Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common
birth defects in all populations worldwide, and have notable population, ethnicity, and …

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

EJ Leslie, MA Taub, H Liu, KM Steinberg… - The American Journal of …, 2015 - cell.com
Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have
identified multiple strongly associated regions, the causal variants are unknown. To address …

Genetics of cleft lip and/or cleft palate: association with other common anomalies

N Setó-Salvia, P Stanier - European journal of medical genetics, 2014 - Elsevier
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

K Saleem, T Zaib, W Sun, S Fu - Heliyon, 2019 - cell.com
Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most
common craniofacial malformation among birth defects in human having multifactorial …