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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. 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
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
Capone GT, Chicoine B, Bulova P, Stephens M, Hart S, Crissman B, Videlefsky A, Myers K, Roizen N, Esbensen A, Peterson M, Santoro S, Woodward J, Martin B, Smith D; Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup. Capone GT, et al. Am J Med Genet A. 2018 Jan;176(1):116-133. doi: 10.1002/ajmg.a.38512. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130597 Review.
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: santoro sl. 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: santoro sl. 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. 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.
75 results