Cleft lip and palate: understanding genetic and environmental influences

MJ Dixon, ML Marazita, TH Beaty… - Nature Reviews Genetics, 2011 - nature.com
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can
occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic …

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 cleft lip and cleft palate

EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Cleft lip and palate

PA Mossey, J Little, RG Munger, MJ Dixon, WC Shaw - The Lancet, 2009 - thelancet.com
Clefts of the lip and palate are generally divided into two groups, isolated cleft palate and
cleft lip with or without cleft palate, representing a heterogeneous group of disorders …

Non-syndromic cleft palate: an overview on human genetic and environmental risk factors

M Martinelli, A Palmieri, F Carinci… - Frontiers in cell and …, 2020 - frontiersin.org
The epithelial and mesenchymal cells involved in early embryonic facial development are
guided by complex regulatory mechanisms. Any factor perturbing the growth, approach and …

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 …

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

F Rahimov, ML Marazita, A Visel, ME Cooper… - Nature …, 2008 - nature.com
Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is
strongly associated with SNPs in IRF6 (interferon regulatory factor 6). Here, we use …

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

CR Ingraham, A Kinoshita, S Kondo, B Yang, S Sajan… - Nature …, 2006 - nature.com
Transcription factor paralogs may share a common role in staged or overlapping expression
in specific tissues, as in the Hox family. In other cases, family members have distinct roles in …

Addressing the challenges of cleft lip and palate research in India

P Mossey, J Little - Indian Journal of Plastic Surgery, 2009 - thieme-connect.com
The Indian sub-continent remains one of the most populous areas of the world with an
estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births …

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 …