Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Journal of human genetics - 1 Jan 2015

Simioni Milena, Araujo Tânia Kawasaki, Monlleo Isabella Lopes, Maurer-Morelli Cláudia Vianna, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome rearrangements, gene mutations and environmental factors. A group of genes including IRF6, FOXE1, GLI2, MSX2, SKI, SATB2, MSX1 and FGF has been implicated in the etiology of OFCs. Recently, the role of the copy number variations (CNVs) has been studied in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cleft Lip
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Association Studies

Share to Kinesins

Share to Phenotype

Share to Protein Isoforms

Share to Transcription Factors

Source

Identifiers

PMID: 25391604
DOI: 10.1038/jhg.2014.96

Genes

GLI2
MSX1
FGF8
FOXE1
KIF7
MSX2
SATB2
SKI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.PMID 25391604Read ↗

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Semantic proximity Read ↗

Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.Semantic proximity Read ↗

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.Semantic proximity Read ↗

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal GeneSemantic proximity Read ↗

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?Semantic proximity Read ↗

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.Semantic proximity Read ↗

A Novel Genetic Variation Identified in Patients With Orofacial Clefts.Semantic proximity Read ↗

Consensus-based Detection of Aetiologic Copy Number Variants For Syndromic Orofacial Clefts Utilising Whole Exome Sequencing of Case Parent TriosSemantic proximity Read ↗

Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiologySemantic proximity Read ↗

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanationSemantic proximity Read ↗

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.Semantic proximity Read ↗

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.