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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: swillen a. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
Velocardiofacial syndrome presenting as distal arthrogryposis.
Devriendt K, Swillen A, Gewillig M, Fryns JP, Moens P, De Smet L. Devriendt K, et al. Among authors: swillen a. Eur J Pediatr. 2004 Jun;163(6):329-30. doi: 10.1007/s00431-004-1429-6. Eur J Pediatr. 2004. PMID: 15346917 No abstract available.
Middle and inner ear malformations in velocardiofacial syndrome.
Devriendt K, Swillen A, Schatteman I, Lemmerling M, Dhooge I. Devriendt K, et al. Among authors: swillen a. Am J Med Genet A. 2004 Dec 1;131(2):225-6. doi: 10.1002/ajmg.a.30326. Am J Med Genet A. 2004. PMID: 15389775 No abstract available.
Mathematical disabilities in children with velo-cardio-facial syndrome.
De Smedt B, Swillen A, Devriendt K, Fryns JP, Verschaffel L, Ghesquière P. De Smedt B, et al. Among authors: swillen a. Neuropsychologia. 2007 Mar 14;45(5):885-95. doi: 10.1016/j.neuropsychologia.2006.08.024. Epub 2006 Oct 17. Neuropsychologia. 2007. PMID: 17049567
133 results