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7. 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 [Abstract] [Full Text] [Related]
11. 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 [Abstract] [Full Text] [Related]
12. A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate. Sylvester B, Brindopke F, Suzuki A, Giron M, Auslander A, Maas RL, Tsai B, Gao H, Magee W, Cox TC, Sanchez-Lara PA. Genes (Basel); 2020 Aug 07; 11(8):. PubMed ID: 32784565 [Abstract] [Full Text] [Related]
14. Identification of IRF6 gene variants in three families with Van der Woude syndrome. Tan EC, Lim EC, Yap SH, Lee ST, Cheng J, Por YC, Yeow V. Int J Mol Med; 2008 Jun 07; 21(6):747-51. PubMed ID: 18506368 [Abstract] [Full Text] [Related]
15. Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE. J Dent Res; 2017 Feb 07; 96(2):179-185. PubMed ID: 27834299 [Abstract] [Full Text] [Related]
18. Novel IRF6 mutations in Honduran Van der Woude syndrome patients. Birkeland AC, Larrabee Y, Kent DT, Flores C, Su GH, Lee JH, Haddad J. Mol Med Rep; 2011 Feb 07; 4(2):237-41. PubMed ID: 21468557 [Abstract] [Full Text] [Related]
19. A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC. Eur J Pediatr; 2010 Feb 07; 169(2):223-8. PubMed ID: 19536562 [Abstract] [Full Text] [Related]
20. [Van-der-Woude Syndrome]. Del Frari B, Amort M, Janecke AR, Schutte BC, Piza-Katzer H. Klin Padiatr; 2008 Feb 07; 220(1):26-8. PubMed ID: 18095255 [Abstract] [Full Text] [Related] Page: [Next] [New Search]