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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. Among authors: susani l. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. J Bone Miner Res. 2013. PMID: 23280965 Free article.
Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26.
Villa A, Patrosso C, Biunno I, Frattini A, Repetto M, Mostardini M, Evans G, Susani L, Strina D, Redolfi E, et al. Villa A, et al. Among authors: susani l. Genomics. 1992 Aug;13(4):1231-6. doi: 10.1016/0888-7543(92)90040-y. Genomics. 1992. PMID: 1505955
Fidelity of a YAC clone in the region of human MCF-2 gene.
Patrosso MC, Frattini A, Susani L, Vezzoni P, Villa A. Patrosso MC, et al. Among authors: susani l. Biochem Biophys Res Commun. 1991 Dec 16;181(2):877-83. doi: 10.1016/0006-291x(91)91272-e. Biochem Biophys Res Commun. 1991. PMID: 1684496
Rapid isolation of cDNA clones by aliquot testing via PCR amplification.
Di Bacco A, Susani L, Villa A, Strina D, Frattini A, Vezzoni P, Zucchi I. Di Bacco A, et al. Among authors: susani l. PCR Methods Appl. 1994 Oct;4(2):126-8. doi: 10.1101/gr.4.2.126. PCR Methods Appl. 1994. PMID: 7580885 Free article. No abstract available.
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: susani l. 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.
35 results