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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
Neurobiological perspective of 22q11.2 deletion syndrome.
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ. Zinkstok JR, et al. Lancet Psychiatry. 2019 Nov;6(11):951-960. doi: 10.1016/S2215-0366(19)30076-8. Epub 2019 Aug 5. Lancet Psychiatry. 2019. PMID: 31395526 Free PMC article. Review.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Fung WL, et al. Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569435 Free PMC article. Review.
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Palmer LD, Butcher NJ, Boot E, Hodgkinson KA, Heung T, Chow EWC, Guna A, Crowley TB, Zackai E, McDonald-McGinn DM, Bassett AS. Palmer LD, et al. Am J Med Genet A. 2018 Apr;176(4):936-944. doi: 10.1002/ajmg.a.38645. Am J Med Genet A. 2018. PMID: 29575622 Free PMC article.
Obesity in adults with 22q11.2 deletion syndrome.
Voll SL, Boot E, Butcher NJ, Cooper S, Heung T, Chow EW, Silversides CK, Bassett AS. Voll SL, et al. Genet Med. 2017 Feb;19(2):204-208. doi: 10.1038/gim.2016.98. Epub 2016 Aug 18. Genet Med. 2017. PMID: 27537705 Free PMC article.
A genetic model for multimorbidity in young adults.
Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral M, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS. Malecki SL, et al. Genet Med. 2020 Jan;22(1):132-141. doi: 10.1038/s41436-019-0603-1. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363180 Free article.
31 results