BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
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DOI: 10.1002/bdr2.1346
Abstract: BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of… read more here.
Keywords: brca1 brca2; brca2; cleft lip; nonsyndromic cleft ... See more keywords
Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
Sign Up to like & getrecommendations! Published in 2019 at "Birth defects research"
DOI: 10.1002/bdr2.1405
Abstract: BACKGROUND GREM1, which encodes Gremlin 1, an antagonist of bone morphogenic proteins with effects on proliferation and apoptosis, has been considered a candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCL±P). In… read more here.
Keywords: grem1; interaction; cleft; nonsyndromic cleft ... See more keywords
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.
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DOI: 10.1002/bdr2.1630
Abstract: Nonsyndromic cleft lip and palate (NSCLP) is one of the most common craniofacial anomalies in humans, affecting more than 135,000 newborns worldwide. NSCLP has a multifactorial etiology with more than 50 genes postulated to play… read more here.
Keywords: hispanic families; tp63; etiology; nonsyndromic cleft ... See more keywords
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2109
Abstract: Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of… read more here.
Keywords: cleft palate; nonsyndromic cleft; cleft lip; without cleft ... See more keywords
Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.121
Abstract: Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial… read more here.
Keywords: developmental dyslexia; lip without; nonsyndromic cleft; without cleft ... See more keywords
A meta-analysis of the relationship between speech and language development in children with nonsyndromic cleft palate with or without cleft lip.
Sign Up to like & getrecommendations! Published in 2024 at "International journal of speech-language pathology"
DOI: 10.1080/17549507.2024.2412610
Abstract: OBJECTIVE Children with nonsyndromic cleft palate with or without cleft lip are at risk of speech production and language delays. In typical development, a strong relationship exists between speech and expressive language development. However, the… read more here.
Keywords: cleft palate; children nonsyndromic; language; palate without ... See more keywords
Association of EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate.
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DOI: 10.1089/gtmb.2017.0252
Abstract: AIMS Nonsyndromic cleft lip with or without palate (NSCL/P) represents a complex condition caused by genetic and environmental factors. The aim of this study was to investigate the relationship between the EPHA3 polymorphisms and NSCL/P.… read more here.
Keywords: lip without; cleft lip; palate; cleft ... See more keywords
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate.
Sign Up to like & getrecommendations! Published in 2021 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0111
Abstract: Objectives: Nonsyndromic cleft lip with or without palate (NSCL/P) is a common congenital orofacial defect, which is associated with severe disruption of orofacial development. The present study was designed to identify potential underlying gene variants… read more here.
Keywords: pax3; lip without; variant; cleft lip ... See more keywords
Association of BRCA2 Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.
Sign Up to like & getrecommendations! Published in 2023 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0223
Abstract: Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex congenital disease affected by gene and environmental factors. Hereditary factors play an important role; however, its specific pathogenic genes and regulatory mechanisms… read more here.
Keywords: nonsyndromic cleft; gene; chinese population; brca2 gene ... See more keywords
Polygenic risk impacts PDGFRA mutation penetrance in nonsyndromic cleft lip and palate.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac037
Abstract: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common, severe craniofacial malformation that imposes significant medical, psychosocial, and financial burdens. NSCL/P is a multifactorial disorder with genetic and environmental factors playing etiologic… read more here.
Keywords: risk; polygenic risk; cleft lip; penetrance ... See more keywords
Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
Sign Up to like & getrecommendations! Published in 2018 at "Oral diseases"
DOI: 10.1111/odi.12879
Abstract: OBJECTIVE Multiple studies have suggested nonsyndromic cleft lip with or without cleft palate (NSCL/P), and lung cancer may have common genetic etiology. Previous studies have showed genetic variants in nicotinic cholinergic receptor genes (CHRNs) may… read more here.
Keywords: lip without; etiology; nonsyndromic cleft; interaction ... See more keywords