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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: uva p. 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.
Chromosome transplantation as a novel approach for correcting complex genomic disorders.
Paulis M, Castelli A, Susani L, Lizier M, Lagutina I, Focarelli ML, Recordati C, Uva P, Faggioli F, Neri T, Scanziani E, Galli C, Lucchini F, Villa A, Vezzoni P. Paulis M, et al. Among authors: uva p. Oncotarget. 2015 Nov 3;6(34):35218-30. doi: 10.18632/oncotarget.6143. Oncotarget. 2015. PMID: 26485770 Free PMC article.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Angius A, et al. Among authors: uva p. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Am J Hum Genet. 2016. PMID: 27392078 Free PMC article.
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
Capo V, Castiello MC, Fontana E, Penna S, Bosticardo M, Draghici E, Poliani LP, Sergi Sergi L, Rigoni R, Cassani B, Zanussi M, Carrera P, Uva P, Dobbs K, Sacchetti N, Notarangelo LD, van Til NP, Wagemaker G, Villa A. Capo V, et al. Among authors: uva p. J Allergy Clin Immunol. 2018 Sep;142(3):928-941.e8. doi: 10.1016/j.jaci.2017.11.015. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241731 Free PMC article.
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: uva p. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786
Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome.
Cervantes-Luevano KE, Caronni N, Castiello MC, Fontana E, Piperno GM, Naseem A, Uva P, Bosticardo M, Marcovecchio GE, Notarangelo LD, Cicalese MP, Aiuti A, Villa A, Benvenuti F. Cervantes-Luevano KE, et al. Among authors: uva p. J Allergy Clin Immunol. 2018 Nov;142(5):1605-1617.e4. doi: 10.1016/j.jaci.2017.11.063. Epub 2018 Feb 13. J Allergy Clin Immunol. 2018. PMID: 29447842 Free PMC article.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L. Alves RM, et al. Among authors: uva p. BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7. BMC Med Genet. 2019. PMID: 30642272 Free PMC article.
104 results