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Page 1
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: rubini m. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
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. Rahimov F, et al. Among authors: rubini m. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836445 Free PMC article.
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: rubini m. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey PA, Noethen M, Dewerchin M, François G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M. Ghassibe-Sabbagh M, et al. Among authors: rubini m. Am J Hum Genet. 2011 Feb 11;88(2):150-61. doi: 10.1016/j.ajhg.2011.01.003. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295280 Free PMC article.
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: rubini m. 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.
Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I. Beaty TH, et al. Among authors: rubini m. Hum Genet. 2013 Jul;132(7):771-81. doi: 10.1007/s00439-013-1283-6. Epub 2013 Mar 20. Hum Genet. 2013. PMID: 23512105 Free PMC article.
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.
Böhmer AC, Mangold E, Tessmann P, Mossey PA, Steegers-Theunissen RP, Lindemans J, Bouwman-Both M, Rubini M, Franceschelli P, Aiello V, Peterlin B, Molloy AM, Nöthen MM, Knapp M, Ludwig KU. Böhmer AC, et al. Among authors: rubini m. Am J Med Genet A. 2013 Oct;161A(10):2545-9. doi: 10.1002/ajmg.a.36141. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038802
Strong association of variants around FOXE1 and orofacial clefting.
Ludwig KU, Böhmer AC, Rubini M, Mossey PA, Herms S, Nowak S, Reutter H, Alblas MA, Lippke B, Barth S, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Kreusch T, Hemprich A, Martini M, Braumann B, Jäger A, Pötzsch B, Molloy A, Peterlin B, Hoffmann P, Nöthen MM, Rojas-Martinez A, Knapp M, Steegers-Theunissen RP, Mangold E. Ludwig KU, et al. Among authors: rubini m. J Dent Res. 2014 Apr;93(4):376-81. doi: 10.1177/0022034514523987. Epub 2014 Feb 21. J Dent Res. 2014. PMID: 24563486
290 results