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SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation.
Haseeb A, Kc R, Angelozzi M, de Charleroy C, Rux D, Tower RJ, Yao L, Pellegrino da Silva R, Pacifici M, Qin L, Lefebvre V. Haseeb A, et al. Among authors: pellegrino da silva r. Proc Natl Acad Sci U S A. 2021 Feb 23;118(8):e2019152118. doi: 10.1073/pnas.2019152118. Proc Natl Acad Sci U S A. 2021. PMID: 33597301 Free PMC article.
Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes.
Chandramouleeswaran PM, Guha M, Shimonosono M, Whelan KA, Maekawa H, Sachdeva UM, Ruthel G, Mukherjee S, Engel N, Gonzalez MV, Garifallou J, Ohashi S, Klein-Szanto AJ, Mesaros CA, Blair IA, Pellegrino da Silva R, Hakonarson H, Noguchi E, Baur JA, Nakagawa H. Chandramouleeswaran PM, et al. Among authors: pellegrino da silva r. PLoS One. 2020 Sep 23;15(9):e0239625. doi: 10.1371/journal.pone.0239625. eCollection 2020. PLoS One. 2020. PMID: 32966340 Free PMC article.
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA. Li D, et al. Among authors: pellegrino da silva r. J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836. J Clin Endocrinol Metab. 2017. PMID: 28323927 Free PMC article.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. Li D, et al. Among authors: pellegrino da silva r. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218. Hum Mol Genet. 2018. PMID: 29905864 Free PMC article.
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.
Morales-Briceño H, Chang FCF, Wong C, Mallawaarachchi A, Wolfe N, Pellegrino da Silva R, Hakonarson H, Sandaradura SA, Guo Y, Christodoulou J, Lagopoulos J, Grattan-Smith P, Fung VSC. Morales-Briceño H, et al. Among authors: pellegrino da silva r. Neurology. 2019 Jan 8;92(2):94-97. doi: 10.1212/WNL.0000000000006744. Neurology. 2019. PMID: 30617166 Free PMC article. No abstract available.
Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents.
Axelrud LK, Sato JR, Santoro ML, Talarico F, Pine DS, Rohde LA, Zugman A, Junior EA, Bressan RA, Grassi-Oliveira R, Pan PM, Hoffmann MS, Simioni AR, Guinjoan SM, Hakonarson H, Brietzke E, Gadelha A, Pellegrino da Silva R, Hoexter MQ, Miguel EC, Belangero SI, Salum GA. Axelrud LK, et al. Among authors: pellegrino da silva r. Neurobiol Aging. 2019 Oct;82:10-17. doi: 10.1016/j.neurobiolaging.2019.06.011. Epub 2019 Jul 6. Neurobiol Aging. 2019. PMID: 31376729 Free PMC article.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: pellegrino da silva r. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Li D, et al. Among authors: pellegrino da silva r. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. Nat Med. 2023. PMID: 37264205