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Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: valentini d. Am J Med Genet A. 2022 Oct;188(10):3049-3062. doi: 10.1002/ajmg.a.62922. Epub 2022 Aug 4. Am J Med Genet A. 2022. PMID: 35924793
Lipid profiles in a large cohort of Italian children with Down syndrome.
Buonuomo PS, Bartuli A, Mastrogiorgio G, Vittucci A, Di Camillo C, Bianchi S, Pires Marafon D, Villani A, Valentini D. Buonuomo PS, et al. Among authors: valentini d. Eur J Med Genet. 2016 Aug;59(8):392-5. doi: 10.1016/j.ejmg.2016.06.005. Epub 2016 Jun 23. Eur J Med Genet. 2016. PMID: 27343989
Detection of iron deficiency in children with Down syndrome.
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Hart SJ, et al. Among authors: valentini d. Genet Med. 2020 Feb;22(2):317-325. doi: 10.1038/s41436-019-0637-4. Epub 2019 Aug 16. Genet Med. 2020. PMID: 31417190 Free PMC article.
Response to Zhang et al.
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Hart SJ, et al. Among authors: valentini d. Genet Med. 2020 Mar;22(3):662. doi: 10.1038/s41436-019-0690-z. Epub 2019 Nov 12. Genet Med. 2020. PMID: 31712672 Free article. No abstract available.
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: valentini d. Genet Med. 2020 Apr;22(4):767-776. doi: 10.1038/s41436-019-0706-8. Epub 2019 Nov 26. Genet Med. 2020. PMID: 31767984 Free article.
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Baban A, Olivini N, Cantarutti N, Calì F, Vitello C, Valentini D, Adorisio R, Calcagni G, Alesi V, Di Mambro C, Villani A, Dallapiccola B, Digilio MC, Marino B, Carotti A, Drago F. Baban A, et al. Among authors: valentini d. Am J Med Genet A. 2020 Jun;182(6):1342-1350. doi: 10.1002/ajmg.a.61586. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319738
COVID-19 and Down syndrome.
Callea M, Cammarata-Scalisi F, Galeotti A, Villani A, Valentini D. Callea M, et al. Among authors: valentini d. Acta Paediatr. 2020 Sep;109(9):1901-1902. doi: 10.1111/apa.15409. Epub 2020 Jul 1. Acta Paediatr. 2020. PMID: 32533572 Free PMC article. No abstract available.
An international survey on the impact of COVID-19 in individuals with Down syndrome.
Hüls A, Costa ACS, Dierssen M, Baksh RA, Bargagna S, Baumer NT, Brandão AC, Carfi A, Carmona-Iragui M, Chicoine BA, Ghosh S, Lakhanpaul M, Manso C, Mayer MA, Del Carmen Ortega M, de Asua DR, Rebillat AS, Russell LA, Sgandurra G, Valentini D, Sherman SL, Strydom A. Hüls A, et al. Among authors: valentini d. medRxiv [Preprint]. 2020 Nov 5:2020.11.03.20225359. doi: 10.1101/2020.11.03.20225359. medRxiv. 2020. PMID: 33173907 Free PMC article. Updated. Preprint.
Medical conditions of children and young people with Down syndrome.
Valentini D, Di Camillo C, Mirante N, Vallogini G, Olivini N, Baban A, Buzzonetti L, Galeotti A, Raponi M, Villani A. Valentini D, et al. J Intellect Disabil Res. 2021 Feb;65(2):199-209. doi: 10.1111/jir.12804. Epub 2021 Jan 10. J Intellect Disabil Res. 2021. PMID: 33426738
Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey.
Hüls A, Costa ACS, Dierssen M, Baksh RA, Bargagna S, Baumer NT, Brandão AC, Carfi A, Carmona-Iragui M, Chicoine BA, Ghosh S, Lakhanpaul M, Manso C, Mayer MA, Ortega MDC, de Asua DR, Rebillat AS, Russell LA, Sgandurra G, Valentini D, Sherman SL, Strydom A; T21RS COVID-19 Initiative. Hüls A, et al. Among authors: valentini d. EClinicalMedicine. 2021 Mar;33:100769. doi: 10.1016/j.eclinm.2021.100769. Epub 2021 Feb 22. EClinicalMedicine. 2021. PMID: 33644721 Free PMC article.
128 results