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Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium. Albagha OM, et al. Among authors: di stefano m. Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845. Nat Genet. 2011. PMID: 21623375 Free article.
Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.
Albagha OM, Visconti MR, Alonso N, Wani S, Goodman K, Fraser WD, Gennari L, Merlotti D, Gianfrancesco F, Esposito T, Rendina D, di Stefano M, Isaia G, Brandi ML, Giusti F, Del Pino-Montes J, Corral-Gudino L, Gonzalez-Sarmiento R, Ward L, Rea SL, Ratajczak T, Walsh JP, Ralston SH. Albagha OM, et al. Among authors: di stefano m. J Bone Miner Res. 2013 Nov;28(11):2338-46. doi: 10.1002/jbmr.1975. J Bone Miner Res. 2013. PMID: 23658060 Free article.
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
Albagha OM, Visconti MR, Alonso N, Langston AL, Cundy T, Dargie R, Dunlop MG, Fraser WD, Hooper MJ, Isaia G, Nicholson GC, del Pino Montes J, Gonzalez-Sarmiento R, di Stefano M, Tenesa A, Walsh JP, Ralston SH. Albagha OM, et al. Among authors: di stefano m. Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436471 Free PMC article.
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Gianfrancesco F, Rendina D, Di Stefano M, Mingione A, Esposito T, Merlotti D, Gallone S, Magliocca S, Goode A, Formicola D, Morello G, Layfield R, Frattini A, De Filippo G, Nuti R, Searle M, Strazzullo P, Isaia G, Mossetti G, Gennari L. Gianfrancesco F, et al. Among authors: di stefano m. J Bone Miner Res. 2012 Feb;27(2):443-52. doi: 10.1002/jbmr.542. J Bone Miner Res. 2012. PMID: 21987421 Free article.
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A, Di Stefano M, Marini F, Ortolani S, Ulivieri MF, Bergui S, Masi L, Cepollaro C, Benucci M, Di Munno O, Rossini M, Adami S, Del Puente A, Isaia G, Torricelli F, Brandi ML; GenePage Project. Falchetti A, et al. Among authors: di stefano m, di munno o. Calcif Tissue Int. 2009 Jan;84(1):20-37. doi: 10.1007/s00223-008-9192-8. Epub 2008 Dec 9. Calcif Tissue Int. 2009. PMID: 19067022
Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone.
Cronin O, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Ranganath LR, Selby PL, Hampson G, Chandra R, Ho S, Tobias JH, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia G, Di Stefano M, Guañabens N, Blanch J, Seibel MJ, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist NL, Boers M, Murray GD, Charnock K, Wilkinson D, Russell RGG, Ralston SH. Cronin O, et al. Among authors: di stefano m. BMJ Open. 2019 Sep 4;9(9):e030689. doi: 10.1136/bmjopen-2019-030689. BMJ Open. 2019. PMID: 31488492 Free PMC article.
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.
Cronin O, Subedi D, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Ranganath LR, Selby PL, Hampson G, Chandra R, Ho S, Tobias JH, Young-Min SA, McKenna MJ, Crowley RK, Fraser WD, Tang J, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Rubio JB, Guanabens N, Seibel MJ, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist NL, Ralston SH. Cronin O, et al. Among authors: di stefano m. J Bone Miner Res. 2020 Jul;35(7):1246-1252. doi: 10.1002/jbmr.4007. Epub 2020 Apr 20. J Bone Miner Res. 2020. PMID: 32176830 Free article.
SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.
Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G. Gennari L, et al. Among authors: di stefano m. J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31. J Bone Miner Res. 2010. PMID: 20200946 Free article.
Increased Prevalence of Nephrolithiasis and Hyperoxaluria in Paget Disease of Bone.
Rendina D, De Filippo G, Merlotti D, Di Stefano M, Mingiano C, Giaquinto A, Evangelista M, Bo M, Arpino S, Faraonio R, Strazzullo P, Gennari L. Rendina D, et al. Among authors: di stefano m. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa576. doi: 10.1210/clinem/dgaa576. J Clin Endocrinol Metab. 2020. PMID: 32827434 Free article.
Vitamin D Status in Paget Disease of Bone and Efficacy-Safety Profile of Cholecalciferol Treatment in Pagetic Patients with Hypovitaminosis D.
Rendina D, De Filippo G, Merlotti D, Di Stefano M, Succoio M, Muggianu SM, Bianciardi S, D'Elia L, Coppo E, Faraonio R, Nuti R, Strazzullo P, Gennari L. Rendina D, et al. Among authors: di stefano m. Calcif Tissue Int. 2019 Oct;105(4):412-422. doi: 10.1007/s00223-019-00578-1. Epub 2019 Jun 24. Calcif Tissue Int. 2019. PMID: 31236621
540 results