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Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Chung PY, Beyens G, Guañabens N, Boonen S, Papapoulos S, Karperien M, Eekhoff M, Van Wesenbeeck L, Jennes K, Geusens P, Offeciers E, Van Offel J, Westhovens R, Zmierczak H, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: guanabens n. Calcif Tissue Int. 2008 Jul;83(1):34-42. doi: 10.1007/s00223-008-9137-2. Epub 2008 Jun 10. Calcif Tissue Int. 2008. PMID: 18543015
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: guanabens n. 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.
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: guanabens n. BMJ Open. 2019 Sep 4;9(9):e030689. doi: 10.1136/bmjopen-2019-030689. BMJ Open. 2019. PMID: 31488492 Free PMC article.
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Janssens K, et al. Among authors: guanabens n. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.
Prevalence of Paget's disease of bone in Spain.
Guañabens N, Garrido J, Gobbo M, Piga AM, del Pino J, Torrijos A, Descalzo MA, García FJ, Cros JR, Carbonell J, Pérez MR, Tornero J, Carmona L; PAGET Study Group. Guañabens N, et al. Bone. 2008 Dec;43(6):1006-9. doi: 10.1016/j.bone.2008.08.108. Epub 2008 Aug 16. Bone. 2008. PMID: 18775524
Clinical Guidelines on Paget's Disease of Bone.
Ralston SH, Corral-Gudino L, Cooper C, Francis RM, Fraser WD, Gennari L, Guanabens N, Javaid MK, Layfield R, O'Neill TW, Russell RGG, Stone MD, Simpson K, Wilkinson D, Wills R, Zillikens MC, Tuck SP. Ralston SH, et al. Among authors: guanabens n. J Bone Miner Res. 2019 Dec;34(12):2327-2329. doi: 10.1002/jbmr.3873. Epub 2019 Oct 25. J Bone Miner Res. 2019. PMID: 31651997 Free article. No abstract available.
187 results