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Page 1
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.
Di Giorgio E, Benavides-Varela S, Porru A, Caviola S, Lunghi M, Rigo P, Mioni G, Calignano G, Annunziata M, Valenza E, Liani V, Beghetti F, Spolaor F, Bettella E, Polli R, Sawacha Z, Murgia A. Di Giorgio E, et al. Among authors: polli r. Int J Mol Sci. 2025 Jan 17;26(2):771. doi: 10.3390/ijms26020771. Int J Mol Sci. 2025. PMID: 39859486 Free PMC article.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: polli r. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Modulating Expression of Endogenous Interleukin 1 Beta in the Acute Phase of the Pilocarpine Model of Epilepsy May Change Animal Survival.
Pascoal VDB, Marchesini RB, Athié MCP, Matos AHB, Conte FF, Pereira TC, Secolin R, Gilioli R, Malheiros JM, Polli RS, Tannús A, Covolan L, Pascoal LB, Vieira AS, Cavalheiro EA, Cendes F, Lopes-Cendes I. Pascoal VDB, et al. Among authors: polli rs. Cell Mol Neurobiol. 2023 Jan;43(1):367-380. doi: 10.1007/s10571-022-01190-y. Epub 2022 Jan 21. Cell Mol Neurobiol. 2023. PMID: 35061107 Free PMC article.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler DE, Ling L, Gamage D, Baker EK, Bui M, Field MJ, Rogers C, Butler MG, Murgia A, Leonardi E, Polli R, Schwartz CE, Skinner CD, Alliende AM, Santa Maria L, Pitt J, Greaves R, Francis D, Oertel R, Wang M, Simons C, Amor DJ. Godler DE, et al. Among authors: polli r. JAMA Netw Open. 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911. JAMA Netw Open. 2022. PMID: 34982160 Free PMC article.
PAX8 lineage-driven T cell engaging antibody for the treatment of high-grade serous ovarian cancer.
Lee E, Szvetecz S, Polli R, Grauel A, Chen J, Judge J, Jaiswal S, Maeda R, Schwartz S, Voedisch B, Piksa M, Japutra C, Sadhasivam L, Wang Y, Carrion A, Isim S, Liang J, Nicholson T, Lei H, Fang Q, Steinkrauss M, Walker D, Wagner J, Cremasco V, Wang HQ, Galli GG, Granda B, Mansfield K, Simmons Q, Nguyen AA, Vincent Jordan N. Lee E, et al. Among authors: polli r. Sci Rep. 2021 Jul 21;11(1):14841. doi: 10.1038/s41598-021-93992-1. Sci Rep. 2021. PMID: 34290299 Free PMC article.
47 results