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Page 1
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H. Khandelwal KD, et al. Among authors: mangold e. Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30850703 Free PMC article. Clinical Trial.
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, Sengteller M, Henn W, Buettner R, Propping P, Mangold E. Pagenstecher C, et al. Among authors: mangold e. Hum Genet. 2006 Mar;119(1-2):9-22. doi: 10.1007/s00439-005-0107-8. Epub 2005 Dec 8. Hum Genet. 2006. PMID: 16341550
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: mangold e. 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.
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
Reutter H, Birnbaum S, Lacava AD, Mende M, Henschke H, Bergé S, Braumann B, Lauster C, Schiefke F, Wenghoefer M, Saffar M, Reich R, Scheer M, Kramer FJ, Knapp M, Mangold E. Reutter H, et al. Among authors: mangold e. Cleft Palate Craniofac J. 2008 May;45(3):267-71. doi: 10.1597/06-174. Cleft Palate Craniofac J. 2008. PMID: 18452350
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: mangold e. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
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. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
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: mangold e. 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
168 results