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Page 1
A new familial sclerosing bone dysplasia.
Chouery E, Pangrazio A, Frattini A, Villa A, Van Wesenbeeck L, Piters E, Van Hul W, Coxon FP, Schouten T, Helfrich M, Lefranc G, Mégarbané A. Chouery E, et al. Among authors: pangrazio a. J Bone Miner Res. 2010 Mar;25(3):676-80. doi: 10.1359/jbmr.090733. J Bone Miner Res. 2010. PMID: 20422625 Free article.
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. J Bone Miner Res. 2013. PMID: 23280965 Free article.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Sobacchi C, et al. Among authors: pangrazio a. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632511
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Guerrini MM, et al. Among authors: pangrazio a. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015. Am J Hum Genet. 2008. PMID: 18606301 Free PMC article.
29 results