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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, Becker J, Herberz R, AlChawa T, Nasser E, Böhmer AC, Mattheisen M, Alblas MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC, Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer FJ, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M, Nöthen MM. Ludwig KU, et al. Among authors: reutter h. Nat Genet. 2012 Sep;44(9):968-71. doi: 10.1038/ng.2360. Epub 2012 Aug 5. Nat Genet. 2012. PMID: 22863734 Free PMC article.
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.
Genome-wide linkage scan for bladder exstrophy-epispadias complex.
Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. Ludwig M, et al. Among authors: reutter h. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):174-8. doi: 10.1002/bdra.20512. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19086019
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
256 results