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Page 1
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH. Alonso N, et al. Among authors: gianfrancesco f. Ann Rheum Dis. 2018 Mar;77(3):378-385. doi: 10.1136/annrheumdis-2017-212469. Epub 2017 Nov 23. Ann Rheum Dis. 2018. PMID: 29170203 Free PMC article.
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: gianfrancesco f. 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: gianfrancesco f. J Bone Miner Res. 2013 Nov;28(11):2338-46. doi: 10.1002/jbmr.1975. J Bone Miner Res. 2013. PMID: 23658060 Free article.
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
Goode A, Long JE, Shaw B, Ralston SH, Visconti MR, Gianfrancesco F, Esposito T, Gennari L, Merlotti D, Rendina D, Rea SL, Sultana M, Searle MS, Layfield R. Goode A, et al. Among authors: gianfrancesco f. Biochim Biophys Acta. 2014 Jul;1842(7):992-1000. doi: 10.1016/j.bbadis.2014.03.006. Epub 2014 Mar 16. Biochim Biophys Acta. 2014. PMID: 24642144 Free PMC article.
Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.
Rendina D, Gianfrancesco F, De Filippo G, Merlotti D, Esposito T, Aloia A, Benvenuto D, Vivona CL, Annunziata G, Nuti R, Strazzullo P, Mossetti G, Gennari L. Rendina D, et al. Among authors: gianfrancesco f. J Endocrinol Invest. 2010 Sep;33(8):519-25. doi: 10.1007/BF03346640. Epub 2009 Dec 22. J Endocrinol Invest. 2010. PMID: 20061786
103 results