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Page 1
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Vendramini-Pittoli S, Kokitsu-Nakata NM, Zechi-Ceide RM, Sobacchi C. Palagano E, et al. Among authors: strina d. Bone. 2021 Dec;153:116152. doi: 10.1016/j.bone.2021.116152. Epub 2021 Aug 14. Bone. 2021. PMID: 34400385
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Villa A, et al. Among authors: strina d. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853
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: strina d. 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.
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
Palagano E, Blair HC, Pangrazio A, Tourkova I, Strina D, Angius A, Cuccuru G, Oppo M, Uva P, Van Hul W, Boudin E, Superti-Furga A, Faletra F, Nocerino A, Ferrari MC, Grappiolo G, Monari M, Montanelli A, Vezzoni P, Villa A, Sobacchi C. Palagano E, et al. Among authors: strina d. J Bone Miner Res. 2015 Oct;30(10):1814-21. doi: 10.1002/jbmr.2517. Epub 2015 May 21. J Bone Miner Res. 2015. PMID: 25829125 Free article.
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: strina d. 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.
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.
Menale C, Robinson LJ, Palagano E, Rigoni R, Erreni M, Almarza AJ, Strina D, Mantero S, Lizier M, Forlino A, Besio R, Monari M, Vezzoni P, Cassani B, Blair HC, Villa A, Sobacchi C. Menale C, et al. Among authors: strina d. J Bone Miner Res. 2019 Nov;34(11):2133-2148. doi: 10.1002/jbmr.3829. Epub 2019 Sep 9. J Bone Miner Res. 2019. PMID: 31295380 Free PMC article.
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis.
Palagano E, Muggeo S, Crisafulli L, Tourkova IL, Strina D, Mantero S, Fontana E, Locatelli SL, Monari M, Morenghi E, Carlo-Stella C, Barnett JB, Blair HC, Vezzoni P, Villa A, Sobacchi C, Ficara F. Palagano E, et al. Among authors: strina d. Bone Rep. 2020 Jan 7;12:100242. doi: 10.1016/j.bonr.2020.100242. eCollection 2020 Jun. Bone Rep. 2020. PMID: 31938717 Free PMC article.
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders.
Paulis M, Susani L, Castelli A, Suzuki T, Hara T, Straniero L, Duga S, Strina D, Mantero S, Caldana E, Sergi LS, Villa A, Vezzoni P. Paulis M, et al. Among authors: strina d. Mol Ther Methods Clin Dev. 2020 Jan 21;17:369-377. doi: 10.1016/j.omtm.2020.01.003. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32099849 Free PMC article.
32 results