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Page 1
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Rahimov F, Nieminen P, Kumari P, Juuri E, Nikopensius T, Paraiso K, German J, Karvanen A, Kals M, Elnahas AG, Karjalainen J, Kurki M, Palotie A; FinnGen; Estonian Biobank Research Team; Heliövaara A, Esko T, Jukarainen S, Palta P, Ganna A, Patni AP, Mar D, Bomsztyk K, Mathieu J, Ruohola-Baker H, Visel A, Fakhouri WD, Schutte BC, Cornell RA, Rice DP. Rahimov F, et al. Among authors: visel a. Nat Commun. 2024 Nov 6;15(1):9568. doi: 10.1038/s41467-024-53634-2. Nat Commun. 2024. PMID: 39500877 Free PMC article.
Congenital heart defects in patients with deletions upstream of SOX9.
Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V, Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S, Le Caignec C. Sanchez-Castro M, et al. Among authors: visel a. Hum Mutat. 2013 Dec;34(12):1628-31. doi: 10.1002/humu.22449. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24115316
Use of "MGE enhancers" for labeling and selection of embryonic stem cell-derived medial ganglionic eminence (MGE) progenitors and neurons.
Chen YJ, Vogt D, Wang Y, Visel A, Silberberg SN, Nicholas CR, Danjo T, Pollack JL, Pennacchio LA, Anderson S, Sasai Y, Baraban SC, Kriegstein AR, Alvarez-Buylla A, Rubenstein JL. Chen YJ, et al. Among authors: visel a. PLoS One. 2013 May 1;8(5):e61956. doi: 10.1371/journal.pone.0061956. Print 2013. PLoS One. 2013. PMID: 23658702 Free PMC article.
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: visel a. 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.
Genomic views of distant-acting enhancers.
Visel A, Rubin EM, Pennacchio LA. Visel A, et al. Nature. 2009 Sep 10;461(7261):199-205. doi: 10.1038/nature08451. Nature. 2009. PMID: 19741700 Free PMC article. Review.
165 results