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Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
J Bone Miner Res. 2009 Jan;24(1):162-7. doi: 10.1359/jbmr.080818.
J Bone Miner Res. 2009.
PMID: 18715141
Free article.
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Pangrazio A, Caldana ME, Lo Iacono N, Mantero S, Vezzoni P, Villa A, Sobacchi C.
Pangrazio A, et al. Among authors: caldana me.
Osteoporos Int. 2012 Nov;23(11):2713-8. doi: 10.1007/s00198-011-1878-5. Epub 2012 Jan 10.
Osteoporos Int. 2012.
PMID: 22231430
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As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
Sobacchi C, Pangrazio A, Lopez AG, Gomez DP, Caldana ME, Susani L, Vezzoni P, Villa A.
Sobacchi C, et al. Among authors: caldana me.
J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203.
J Bone Miner Res. 2014.
PMID: 24535816
Free PMC article.
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Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.
Neri T, Muggeo S, Paulis M, Caldana ME, Crisafulli L, Strina D, Focarelli ML, Faggioli F, Recordati C, Scaramuzza S, Scanziani E, Mantero S, Buracchi C, Sobacchi C, Lombardo A, Naldini L, Vezzoni P, Villa A, Ficara F.
Neri T, et al. Among authors: caldana me.
Stem Cell Reports. 2015 Oct 13;5(4):558-68. doi: 10.1016/j.stemcr.2015.08.005. Epub 2015 Sep 3.
Stem Cell Reports. 2015.
PMID: 26344905
Free PMC article.
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