Associated Papers
Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.
Yang CW et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Diaz Perez KK et al.
American Journal of Medical Genetics. Part A, 2023
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Perez KKD et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA et al.
Molecular Genetics & Genomic Medicine, 2020
32558391 (PubMed )
Supplement: MGG3-8-e1355-s001.xlsx › Sheet2
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Busche A et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
Leslie EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Little HJ et al.
Human Molecular Genetics, 2009
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
Ghassibé M et al.
Journal of Medical Genetics, 2004
Select a paper to view details