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Page 1
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: breetvelt ej. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
BDNF Val66Met homozygosity does not influence plasma BDNF levels in healthy human subjects.
Luykx JJ, Boks MP, Breetvelt EJ, Aukes MF, Strengman E, da Pozzo E, Dell'osso L, Marazziti D, van Leeuwen A, Vreeker A, Abramovic L, Martini C, Numans ME, Kahn RS, Ophoff RA. Luykx JJ, et al. Among authors: breetvelt ej. Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jun 3;43:185-7. doi: 10.1016/j.pnpbp.2012.12.017. Epub 2012 Dec 23. Prog Neuropsychopharmacol Biol Psychiatry. 2013. PMID: 23269345
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
Schumann G, Coin LJ, Lourdusamy A, Charoen P, Berger KH, Stacey D, Desrivières S, Aliev FA, Khan AA, Amin N, Aulchenko YS, Bakalkin G, Bakker SJ, Balkau B, Beulens JW, Bilbao A, de Boer RA, Beury D, Bots ML, Breetvelt EJ, Cauchi S, Cavalcanti-Proença C, Chambers JC, Clarke TK, Dahmen N, de Geus EJ, Dick D, Ducci F, Easton A, Edenberg HJ, Esko T, Fernández-Medarde A, Foroud T, Freimer NB, Girault JA, Grobbee DE, Guarrera S, Gudbjartsson DF, Hartikainen AL, Heath AC, Hesselbrock V, Hofman A, Hottenga JJ, Isohanni MK, Kaprio J, Khaw KT, Kuehnel B, Laitinen J, Lobbens S, Luan J, Mangino M, Maroteaux M, Matullo G, McCarthy MI, Mueller C, Navis G, Numans ME, Núñez A, Nyholt DR, Onland-Moret CN, Oostra BA, O'Reilly PF, Palkovits M, Penninx BW, Polidoro S, Pouta A, Prokopenko I, Ricceri F, Santos E, Smit JH, Soranzo N, Song K, Sovio U, Stumvoll M, Surakk I, Thorgeirsson TE, Thorsteinsdottir U, Troakes C, Tyrfingsson T, Tönjes A, Uiterwaal CS, Uitterlinden AG, van der Harst P, van der Schouw YT, Staehlin O, Vogelzangs N, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Whitfield JB, Wichmann EH, Willemsen G, Witteman JC, Yuan X, Zhai G, Zhao JH, Zhang W, Martin NG, Metspalu A, D… See abstract for full author list ➔ Schumann G, et al. Among authors: breetvelt ej. Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7119-24. doi: 10.1073/pnas.1017288108. Epub 2011 Apr 6. Proc Natl Acad Sci U S A. 2011. PMID: 21471458 Free PMC article.
Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.
Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Vorstman JA, et al. Among authors: breetvelt ej. JAMA Psychiatry. 2015 Apr;72(4):377-85. doi: 10.1001/jamapsychiatry.2014.2671. JAMA Psychiatry. 2015. PMID: 25715178 Free PMC article.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011 PMID: 28965848 Free PMC article. Retracted.
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