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Page 1
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Among authors: vellody k. Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332275
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Among authors: vellody k. Am J Med Genet A. 2015 Nov;167A(11):2520-6. doi: 10.1002/ajmg.a.37267. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249752
Detecting celiac disease in patients with Down syndrome.
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Sharr C, et al. Among authors: vellody k. Am J Med Genet A. 2016 Dec;170(12):3098-3105. doi: 10.1002/ajmg.a.37879. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605215
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: vellody k. 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: vellody k. 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: vellody k. 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.
Dermatologic conditions in Down syndrome.
Ryan C, Vellody K, Belazarian L, Rork JF. Ryan C, et al. Among authors: vellody k. Pediatr Dermatol. 2021 Nov;38 Suppl 2:49-57. doi: 10.1111/pde.14731. Epub 2021 Aug 21. Pediatr Dermatol. 2021. PMID: 34418156 Review.
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: vellody k. 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
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
Oreskovic NM, Baumer NT, Di Camillo C, Cornachia M, Franklin C, Hart SJ, Kishnani PS, McCormick A, Milliken AL, Patsiogiannis V, Pawlowski KG, Santoro SL, Sargado S, Scoppola V, Torres A, Valentini D, Vellody K, Villani A, Skotko BG. Oreskovic NM, et al. Among authors: vellody k. Am J Med Genet A. 2023 Mar;191(3):813-822. doi: 10.1002/ajmg.a.63088. Epub 2022 Dec 20. Am J Med Genet A. 2023. PMID: 36538912
26 results