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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. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Nat Genet. 2002. PMID: 12219090 Free PMC article.
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. Zucchero TM, et al. Among authors: kondo s. N Engl J Med. 2004 Aug 19;351(8):769-80. doi: 10.1056/NEJMoa032909. N Engl J Med. 2004. PMID: 15317890 Free article.
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, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC. de Lima RL, et al. Among authors: kondo s. Genet Med. 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. Genet Med. 2009. PMID: 19282774 Free PMC article.
Congenital arhinia: molecular-genetic analysis of five patients.
Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Sato D, et al. Among authors: kondo s. Am J Med Genet A. 2007 Mar 15;143A(6):546-52. doi: 10.1002/ajmg.a.31613. Am J Med Genet A. 2007. PMID: 17304554
3,630 results