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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.
Pelleri MC, Cicchini E, Petersen MB, Tranebjaerg L, Mattina T, Magini P, Antonaros F, Caracausi M, Vitale L, Locatelli C, Seri M, Strippoli P, Piovesan A, Cocchi G. Pelleri MC, et al. Among authors: locatelli c. Mol Genet Genomic Med. 2019 Aug;7(8):e797. doi: 10.1002/mgg3.797. Epub 2019 Jun 25. Mol Genet Genomic Med. 2019. PMID: 31237416 Free PMC article.
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
Pelleri MC, Cicchini E, Locatelli C, Vitale L, Caracausi M, Piovesan A, Rocca A, Poletti G, Seri M, Strippoli P, Cocchi G. Pelleri MC, et al. Among authors: locatelli c. Hum Mol Genet. 2016 Jun 15;25(12):2525-2538. doi: 10.1093/hmg/ddw116. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106104 Free PMC article.
Plasma metabolome and cognitive skills in Down syndrome.
Antonaros F, Ghini V, Pulina F, Ramacieri G, Cicchini E, Mannini E, Martelli A, Feliciello A, Lanfranchi S, Onnivello S, Vianello R, Locatelli C, Cocchi G, Pelleri MC, Vitale L, Strippoli P, Luchinat C, Turano P, Piovesan A, Caracausi M. Antonaros F, et al. Among authors: locatelli c. Sci Rep. 2020 Jun 26;10(1):10491. doi: 10.1038/s41598-020-67195-z. Sci Rep. 2020. PMID: 32591596 Free PMC article.
The transcriptome profile of human trisomy 21 blood cells.
Antonaros F, Zenatelli R, Guerri G, Bertelli M, Locatelli C, Vione B, Catapano F, Gori A, Vitale L, Pelleri MC, Ramacieri G, Cocchi G, Strippoli P, Caracausi M, Piovesan A. Antonaros F, et al. Among authors: locatelli c. Hum Genomics. 2021 May 1;15(1):25. doi: 10.1186/s40246-021-00325-4. Hum Genomics. 2021. PMID: 33933170 Free PMC article.
A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.
Locatelli C, Onnivello S, Gori C, Ramacieri G, Pulina F, Marcolin C, Vianello R, Vione B, Caracausi M, Pelleri MC, Vitale L, Pirazzoli GL, Cocchi G, Corvaglia L, Strippoli P, Antonaros F, Piovesan A, Lanfranchi S. Locatelli C, et al. Sci Rep. 2022 Feb 24;12(1):3104. doi: 10.1038/s41598-022-06984-0. Sci Rep. 2022. PMID: 35210468 Free PMC article.
393 results