Associated Papers
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
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 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
23154523 (PubMed )
Supplement: gim2012141x1.pdf
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
IRF6 mutations in mixed isolated familial clefting.
Rutledge KD et al.
American Journal of Medical Genetics. Part A, 2010
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
de Lima RL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
Paranaíba LM et al.
International Journal of Molecular Medicine, 2008
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
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
Matsuzawa N et al.
Journal of Dental Research, 2006
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S et al.
Nature Genetics, 2002
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