Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

ML Marazita, JC Murray, AC Lidral… - The American Journal of …, 2004 - cell.com
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect
with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P …

[图书][B] Cleft lip and palate: from origin to treatment

DF Wyszynski - 2002 - books.google.com
Majoradvances in the diagnosis and treatment of oral clefts have been made in the past 50
years, and recent genetics and epidemiological studies have led to new theories about the …

[HTML][HTML] Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities

TH Beaty, ML Marazita, EJ Leslie - F1000Research, 2016 - ncbi.nlm.nih.gov
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which
combined represent the largest group of craniofacial malformations in humans with an …

Current concepts in genetics of nonsyndromic clefts

J Murthy, L Bhaskar - Indian Journal of Plastic Surgery, 2009 - thieme-connect.com
Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype,
largely attributed to the interactions of the environment and multiple genes, each potentially …

Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model

AC Lidral, JC Murray - Birth Defects Research Part A: Clinical …, 2004 - Wiley Online Library
BACKGROUND Understanding the etiology of birth defects is an important step toward
developing improved treatment and preventive strategies. Most birth defects have an …

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

AR Vieira, JR Avila, S Daack-Hirsch, E Dragan… - PLoS …, 2005 - journals.plos.org
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide
geographic distribution with an average birth prevalence of 1/700. We used direct …

Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International …

LE Mitchell, TH Beaty, AC Lidral… - The Cleft palate …, 2002 - journals.sagepub.com
Objective The members of the International Consortium for Oral Clefts Genetics recognize
the need for collaboration between researchers involved in etiologic studies of …

Genetics of syndromic and nonsyndromic cleft lip and palate

L Stuppia, M Capogreco, G Marzo… - Journal of …, 2011 - journals.lww.com
Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital
malformations in Western countries. Based on their association with specific malformative …

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

M Basha, B Demeer, N Revencu, R Helaers… - Journal of medical …, 2018 - jmg.bmj.com
Background Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most
common craniofacial birth defects with an approximate incidence of~ 1/700. To date …

An update on the aetiology of orofacial clefts

FK Wong, U Hägg - Hong Kong Medical Journal, 2004 - hub.hku.hk
Objective. To review recent data on the aetiology of cleft lip and palate. Data sources.
MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of …