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Down syndrome: national conference on patient registries, research databases, and biobanks.
Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT. Oster-Granite ML, et al. Among authors: parisi ma. Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21835664 Free PMC article.
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan.
Bardhan S, Li H, Tarver E, Schramm C, Brown M, Garcia L, Schwartz B, Mazzucco A, Natarajan N, Walsh E, Ryan L, Pearson G, Parisi MA. Bardhan S, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2024 Mar;196(1):e32081. doi: 10.1002/ajmg.c.32081. Epub 2024 Jan 10. Am J Med Genet C Semin Med Genet. 2024. PMID: 38197535 Review.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM. Camp KM, et al. Among authors: parisi ma. Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23. Mol Genet Metab. 2013. PMID: 23806236 Free PMC article.
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: parisi ma. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Health Supervision for Children and Adolescents With Down Syndrome.
Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Bull MJ, et al. Among authors: parisi ma. Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. Pediatrics. 2022. PMID: 35490285 No abstract available.
91 results