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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Among authors: devriendt k. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P. Stalmans I, et al. Among authors: devriendt k. Nat Med. 2003 Feb;9(2):173-82. doi: 10.1038/nm819. Epub 2003 Jan 21. Nat Med. 2003. PMID: 12539040
Velocardiofacial syndrome presenting as distal arthrogryposis.
Devriendt K, Swillen A, Gewillig M, Fryns JP, Moens P, De Smet L. Devriendt K, et al. 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.
Anterior cervical hypertrichosis and mental retardation.
Thienpont B, Vermeesch J, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Clin Dysmorphol. 2006 Jul;15(3):189-190. doi: 10.1097/01.mcd.0000204988.39119.9d. Clin Dysmorphol. 2006. PMID: 16760744
592 results