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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: boot e. 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.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: boot e. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome.
Boot E, Booij J, Zinkstok J, Abeling N, de Haan L, Baas F, Linszen D, van Amelsvoort T. Boot E, et al. Neuropsychopharmacology. 2008 May;33(6):1252-8. doi: 10.1038/sj.npp.1301508. Epub 2007 Jul 25. Neuropsychopharmacology. 2008. PMID: 17653112
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Proton magnetic resonance spectroscopy in 22q11 deletion syndrome.
da Silva Alves F, Boot E, Schmitz N, Nederveen A, Vorstman J, Lavini C, Pouwels PJ, de Haan L, Linszen D, van Amelsvoort T. da Silva Alves F, et al. Among authors: boot e. PLoS One. 2011;6(6):e21685. doi: 10.1371/journal.pone.0021685. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738766 Free PMC article.
116 results