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Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM. Mangold E, et al. Among authors: de assis na. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent.
Reutter H, Birnbaum S, Mende M, de Assis NA, Hoffmann P, Lacava AD, Herms S, Braumann B, Scheer M, Lauster C, Schmidt G, Schiefke F, Dunsche A, Martini M, Knapp M, Kramer FJ, Nöthen MM, Mangold E. Reutter H, et al. Among authors: de assis na. Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1334-8. doi: 10.1016/j.ijporl.2009.06.004. Epub 2009 Jul 7. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19586667
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
de Assis NA, Nowak S, Ludwig KU, Reutter H, Vollmer J, Heilmann S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Knapp M, Wienker TF, Kramer FJ, Hoffmann P, Nöthen MM, Mangold E. de Assis NA, et al. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):49-52. doi: 10.1016/j.ijporl.2010.10.005. Epub 2010 Nov 1. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21044801
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.
Birnbaum S, Reutter H, Mende M, de Assis NA, Diaz-Lacava A, Herms S, Scheer M, Lauster C, Braumann B, Schmidt G, Martini M, Hemprich A, Pötzsch S, Knapp M, Nöthen MM, Kramer FJ, Mangold E. Birnbaum S, et al. Among authors: de assis na. Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x. Eur J Oral Sci. 2009. PMID: 19320731
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
Birnbaum S, Ludwig KU, Reutter H, Herms S, de Assis NA, Diaz-Lacava A, Barth S, Lauster C, Schmidt G, Scheer M, Saffar M, Martini M, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Pötzsch B, Wienker TF, Hoffmann P, Knapp M, Kramer FJ, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: de assis na. Eur J Oral Sci. 2009 Dec;117(6):766-9. doi: 10.1111/j.1600-0722.2009.00680.x. Eur J Oral Sci. 2009. PMID: 20121942