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Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gaines LA, Even D, Braimah RO, Aregbesola BS, Rigdon JV, Emeka CI, James O, Ogunlewe MO, Ladeinde AL, Abate F, Hailu T, Mohammed I, Gravem PE, Deribew M, Gesses M, Adeyemo AA, Murray JC. Butali A, et al. Among authors: murray jc. Mol Genet Genomic Med. 2014 May;2(3):254-60. doi: 10.1002/mgg3.66. Epub 2014 Jan 27. Mol Genet Genomic Med. 2014. PMID: 24936515 Free PMC article.
Complex trinucleotide repeat polymorphism in the HOX B6 gene.
O'Brien S, Even DA, Murray JC. O'Brien S, et al. Among authors: murray jc. Hum Mutat. 1997;9(3):280-1. doi: 10.1002/(SICI)1098-1004(1997)9:3<280::AID-HUMU12>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9090534 No abstract available.
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
Schutte BC, Basart AM, Watanabe Y, Laffin JJ, Coppage K, Bjork BC, Daack-Hirsch S, Patil S, Dixon MJ, Murray JC. Schutte BC, et al. Among authors: murray jc. Am J Med Genet. 1999 May 21;84(2):145-50. doi: 10.1002/(sici)1096-8628(19990521)84:2<145::aid-ajmg11>3.0.co;2-l. Am J Med Genet. 1999. PMID: 10323740
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Kondo S, et al. Among authors: murray jc. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Nat Genet. 2002. PMID: 12219090 Free PMC article.
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Rahimov F, et al. Among authors: murray jc. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836445 Free PMC article.
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC. Rorick NK, et al. Among authors: murray jc. Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13. Am J Med Genet A. 2011. PMID: 21574244 Free PMC article.
777 results