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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: reutter h. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate.
Birnbaum S, Reutter H, Mende M, Díaz-Lacava A, Henschke H, Bergé SJ, Braumann B, Lauster C, Hemprich A, Wenghoefer M, Saffar M, Reich RH, Scheer M, Knapp M, Kramer FJ, Mangold E. Birnbaum S, et al. Among authors: reutter h. Am J Med Genet A. 2007 Jan 15;143A(2):205-7. doi: 10.1002/ajmg.a.31579. Am J Med Genet A. 2007. PMID: 17163541 No abstract available.
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.
Birnbaum S, Reutter H, Lauster C, Scheer M, Schmidt G, Saffar M, Martini M, Hemprich A, Henschke H, Kramer FJ, Mangold E. Birnbaum S, et al. Among authors: reutter h. Am J Med Genet A. 2008 Mar 15;146A(6):787-90. doi: 10.1002/ajmg.a.32219. Am J Med Genet A. 2008. PMID: 18247422 No abstract available.
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
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. Birnbaum S, et al. Among authors: reutter h. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
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: reutter h. 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
244 results