Associated Papers
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
Genetic variant classification by predicted protein structure: A case study on IRF6.
Murali H et al.
Computational and Structural Biotechnology Journal, 2024
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
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
Velázquez-Aragón JA et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2021
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
Van der Woude Syndrome: IRF6 Mutations.
Sunny AP et al.
Indian Journal of Pediatrics, 2019
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
A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree.
Zhao H et al.
Mutagenesis, 2018
Genomic analysis of head and neck cancer cases from two high incidence regions.
Perdomo S et al.
Plos One, 2018
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 2017
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD et al.
Journal of Dental Research, 2017
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Leslie EJ et al.
Clinical Genetics, 2016
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
Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.
Salahshourifar I et al.
European Journal of Medical Genetics, 2012
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N et al.
American Journal of Medical Genetics. Part A, 2010
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
Jehee FS et al.
American Journal of Medical Genetics. Part A, 2009
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
Brosch S et al.
International Journal of Molecular Medicine, 2007
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
Matsuzawa N et al.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2004