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Journal Abstract Search

251 related items for PubMed ID: 23154523

  • 1. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
    Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC.
    Genet Med; 2013 May; 15(5):338-44. PubMed ID: 23154523
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  • 2. Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
    Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G.
    Am J Med Genet A; 2016 Sep; 170(9):2404-7. PubMed ID: 27286731
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  • 3. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
    Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC.
    Am J Med Genet A; 2013 Oct; 161A(10):2535-2544. PubMed ID: 23949966
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  • 7. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
    Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ.
    Am J Med Genet A; 2015 Mar; 167A(3):545-52. PubMed ID: 25691407
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  • 8. Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
    Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A.
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1355. PubMed ID: 32558391
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  • 12. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
    Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K.
    Am J Med Genet A; 2010 Sep; 152A(9):2262-7. PubMed ID: 20803643
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  • 13. Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
    Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, Gakhar L, Subramanian R, Schutte BC, Dixon MJ, Shore P.
    Hum Mol Genet; 2009 Feb 01; 18(3):535-45. PubMed ID: 19036739
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  • 14. Toward an orofacial gene regulatory network.
    Kousa YA, Schutte BC.
    Dev Dyn; 2016 Mar 01; 245(3):220-32. PubMed ID: 26332872
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  • 15. 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.
    Am J Med Genet A; 2011 Jun 01; 155A(6):1314-21. PubMed ID: 21574244
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  • 17. [IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].
    Wang XF, Xiao MZ, Shi JN, Zhang HB, Hu LD, Kong XY.
    Shanghai Kou Qiang Yi Xue; 2005 Jun 01; 14(3):234-7. PubMed ID: 15995766
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