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Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.
Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC. Jezewski PA, et al. Among authors: machida j. J Med Genet. 2003 Jun;40(6):399-407. doi: 10.1136/jmg.40.6.399. J Med Genet. 2003. PMID: 12807959 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: machida j. N Engl J Med. 2004 Aug 19;351(8):769-80. doi: 10.1056/NEJMoa032909. N Engl J Med. 2004. PMID: 15317890 Free article.
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate.
Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper ME, Viet le T, Nguyen TD, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC. Suzuki Y, et al. Among authors: machida j. Genet Med. 2004 May-Jun;6(3):117-25. doi: 10.1097/01.gim.0000127275.52925.05. Genet Med. 2004. PMID: 15354328
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC. Moreno LM, et al. Among authors: machida j. Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24. Hum Mol Genet. 2009. PMID: 19779022 Free PMC article.
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.
Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC. Lidral AC, et al. Among authors: machida j. Am J Hum Genet. 1998 Aug;63(2):557-68. doi: 10.1086/301956. Am J Hum Genet. 1998. PMID: 9683588 Free PMC article.
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa N. Matsuzawa N, et al. Among authors: machida j. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Oct;98(4):414-7. doi: 10.1016/j.tripleo.2003.12.034. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004. PMID: 15472655
103 results