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Page 1
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: vezzoni p. J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559. J Bone Miner Res. 2012. PMID: 22271396 Free PMC article.
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A. Taranta A, et al. Among authors: vezzoni p. Am J Pathol. 2003 Jan;162(1):57-68. doi: 10.1016/S0002-9440(10)63798-4. Am J Pathol. 2003. PMID: 12507890 Free PMC article.
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Frattini A, et al. Among authors: vezzoni p. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740. J Bone Miner Res. 2003. PMID: 14584882 Free article.
Damaging-agent sensitivity of Artemis-deficient cell lines.
Musio A, Marrella V, Sobacchi C, Rucci F, Fariselli L, Giliani S, Lanzi G, Notarangelo LD, Delia D, Colombo R, Vezzoni P, Villa A. Musio A, et al. Among authors: vezzoni p. Eur J Immunol. 2005 Apr;35(4):1250-6. doi: 10.1002/eji.200425555. Eur J Immunol. 2005. PMID: 15770702 Free article.
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
Frattini A, Blair HC, Sacco MG, Cerisoli F, Faggioli F, Catò EM, Pangrazio A, Musio A, Rucci F, Sobacchi C, Sharrow AC, Kalla SE, Bruzzone MG, Colombo R, Magli MC, Vezzoni P, Villa A. Frattini A, et al. Among authors: vezzoni p. Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14629-34. doi: 10.1073/pnas.0507637102. Epub 2005 Sep 29. Proc Natl Acad Sci U S A. 2005. PMID: 16195375 Free PMC article.
Polymorphisms of the CLCN7 gene are associated with BMD in women.
Pettersson U, Albagha OM, Mirolo M, Taranta A, Frattini A, McGuigan FE, Vezzoni P, Teti A, van Hul W, Reid DM, Villa A, Ralston SH. Pettersson U, et al. Among authors: vezzoni p. J Bone Miner Res. 2005 Nov;20(11):1960-7. doi: 10.1359/JBMR.050717. Epub 2005 Jul 18. J Bone Miner Res. 2005. PMID: 16234969 Free article.
Tissue-specific sensitivity to AID expression in transgenic mouse models.
Rucci F, Cattaneo L, Marrella V, Sacco MG, Sobacchi C, Lucchini F, Nicola S, Della Bella S, Villa ML, Imberti L, Gentili F, Montagna C, Tiveron C, Tatangelo L, Facchetti F, Vezzoni P, Villa A. Rucci F, et al. Among authors: vezzoni p. Gene. 2006 Aug 1;377:150-8. doi: 10.1016/j.gene.2006.03.024. Epub 2006 May 3. Gene. 2006. PMID: 16787714
RAG-dependent primary immunodeficiencies.
Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: vezzoni p. Hum Mutat. 2006 Dec;27(12):1174-84. doi: 10.1002/humu.20408. Hum Mutat. 2006. PMID: 16960852 Review.
176 results