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63449105241
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
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Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM, Mangold E. 2009. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41:473-477.
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
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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. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
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An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population
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Montpetit A, Nelis M, Laflamme P, Mägi R, Ke X, Remm M, Cardon L, Hudson TJ, Metspalu A. 2006. An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population. PLoS Genet 2:e27.
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Mueller JC, Lõhmussaar E, Mägi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. 2005. Linkage disequilibrium patterns and tag SNP transferability among European populations. Am J Hum Genet 76:387-398. (Pubitemid 40250519)
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Genetic structure of Europeans: A view from the North-East
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Nelis M, Esko T, Mäagi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskáčková T, Balaščák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgár N, Toniolo D, Gasparini P, D'Adamo P, Klovins J, Niditina-Zake L, Kučinskas V, Kasnauskienė J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Juliá A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A. 2009. Genetic structure of Europeans: A view from the North-East. PLoS One 4:e5472.
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6
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55049105999
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Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
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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. 2008. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40:1341-1347.
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Familial risk of oral clefts by morphological type and severity: Population based cohort study of first degree relatives
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Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harville E, Lie RT. 2008. Familial risk of oral clefts by morphological type and severity: Population based cohort study of first degree relatives. Br Med J 23:432-434. (Pubitemid 351310889)
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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. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769-780. (Pubitemid 39095312)
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