Produzione scientifica
- Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells. Sette G, Lo Cicero S, Blaconà G, Pierandrei S, Bruno SM, Salvati V, Castelli G, Falchi M, Fabrizzi B, Cimino G, De Maria R, Biffoni M, Eramo A, Lucarelli M. Eur Respir J. 2021 Dec 2;58(6):2100908. doi: 10.1183/13993003.00908-2021.
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M.Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672.
- Role of bronchoscopy in critically ill patients managed in intermediate care units - indications and complications: A narrative review. Menditto VG, Mei F, Fabrizzi B, Bonifazi M.World J Crit Care Med. 2021 Nov 9;10(6):334-344. doi: 10.5492/wjccm.v10.i6.334.
- Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences. Tosco A, Carnovale V, Claut L, Fabrizzi B, Majo F, Castellani C, Sepe A, Castaldo G, Terlizzi V.Pediatr Pulmonol. 2023 Apr;58(4):1253-1255. doi: 10.1002/ppul.26323.
- Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. Bezzerri V, Vella A, Gennaro GD, Ortolani R, Nicolis E, Cesaro S, Fabrizzi B, Bronte V, Corey SJ, Cipolli M.Pediatr Blood Cancer. 2019 May;66(5):e27597. doi: 10.1002/pbc.27597.
- Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype. Tosco A, Castaldo A, Colombo C, Claut L, Carnovale V, Iacotucci P, Lucarelli M, Cimino G, Fabrizzi B, Caporelli N, Majo F, Ciciriello F, Padoan R, Poli P, Taccetti G, Centrone C, Casciaro R, Castellani C, Salvatore D, Colangelo C, Bonomi P, Castaldo G, Terlizzi V.J Cyst Fibros. 2022 Sep;21(5):850-855. doi: 10.1016/j.jcf.2022.04.020.
- The impact of elexacaftor/tezacaftor/ivacaftor therapy on the pulmonary management of adults with cystic fibrosis: An expert-based Delphi consensus. Gramegna A, Aliberti S, Calderazzo MA, Casciaro R, Ceruti C, Cimino G, Fabrizzi B, Lucanto C, Messore B, Pisi G, Taccetti G, Tarsia P, Blasi F, Cipolli M.Respir Med. 2023 Nov 3;220:107455. doi: 10.1016/j.rmed.2023.107455.
- A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening. Tosco A, Marino D, Polizzi S, Tradati V, Padoan R, Giust C, Fabrizzi B, Taccetti G, Merli L, Terlizzi V.Children (Basel). 2023 Jan 18;10(2):177. doi: 10.3390/children10020177.
- Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene. Pierandrei S, Blaconà G, Fabrizzi B, Cimino G, Cirilli N, Caporelli N, Angeloni A, Cipolli M, Lucarelli M.PLoS One. 2019 Oct 8;14(10):e0222838. doi: 10.1371/journal.pone.0222838.
- Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation. Dolce D, Claut L, Colombo C, Tosco A, Castaldo A, Padoan R, Timpano S, Fabrizzi B, Bonomi P, Taccetti G, Terlizzi V.J Cyst Fibros. 2023 Jan;22(1):73-78. doi: 10.1016/j.jcf.2022.07.007.
- CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development? Terlizzi V, Padoan R, Claut L, Colombo C, Fabrizzi B, Lucarelli M, Bruno SM, Castaldo A, Bonomi P, Taccetti G, Tosco A.Diagnostics (Basel). 2020 Dec 12;10(12):1080. doi: 10.3390/diagnostics10121080.
- Role of Bronchial Artery Embolization as Early Treatment Option in Stable Cystic Fibrosis Patients with Sub-Massive Hemoptysis: Personal Experience and Literature Review. Floridi C, Boscarato P, Ventura C, Bruno A, Rossini N, Baldassari M, Lanza C, Fabrizzi B, Candelari R, Giovagnoni A.J Clin Med. 2022 Oct 30;11(21):6432. doi: 10.3390/jcm11216432.
- Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis. Terlizzi V, Claut L, Colombo C, Tosco A, Castaldo A, Fabrizzi B, Lucarelli M, Cimino G, Carducci C, Dolce D, Biffi A, Bonomi P, Timpano S, Padoan R.Pediatr Pulmonol. 2021 Dec;
- mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment. Vella A, D'Aversa E, Api M, Breveglieri G, Allegri M, Giacomazzi A, Marinelli Busilacchi E, Fabrizzi B, Cestari T, Sorio C, Bedini G, D'Amico G, Bronte V, Poloni A, Benedetti A, Bovo C, Corey SJ, Borgatti M, Cipolli M, Bezzerri V.Cancers (Basel). 2020 Mar 5;12(3):597. doi: 10.3390/cancers12030597.
- A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres. Terlizzi V, Claut L, Tosco A, Colombo C, Raia V, Fabrizzi B, Lucarelli M, Angeloni A, Cimino G, Castaldo A, Marsiglio L, Timpano S, Cirilli N, Moroni L, Festini F, Piccinini P, Zavataro L, Bonomi P, Taccetti G, Southern KW, Padoan R.J Cyst Fibros. 2021 Sep;20(5):828-834. doi: 10.1016/j.jcf.2021.03.015.
- Is cellular senescence involved in cystic fibrosis? Bezzerri V, Piacenza F, Caporelli N, Malavolta M, Provinciali M, Cipolli M.Respir Res. 2019 Feb 14;20(1):32. doi: 10.1186/s12931-019-0993-2.
- Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells. Cipolli M, Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D'Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, Bezzerri V. Br J Haematol. 2023 Oct 24. doi: 10.1111/bjh.19134.
- Defining research priorities in cystic fibrosis. Can existing knowledge and training in biomedical research affect the choice?Buzzetti R, Galici V, Cirilli N, Majo F, Graziano L, Costa S, Bonacina S, Carrubba M, Davì G, Gagliano S, Cazzarolli C, Ficili F, Alghisi F, Samaja M, Magazzù G; CF Italian Patient Centered Outcomes Research Working Group (IPaCOR).J Cyst Fibros. 2019 May;18(3):378-381. doi: 10.1016/j.jcf.2018.02.009.
- Standards of care guidance for sweat testing; phase two of the ECFS quality improvement programme. Cirilli N, Southern KW, Barben J, Vermeulen F, Munck A, Wilschanski M, Nguyen-Khoa T, Aralica M, Simmonds NJ, De Wachter E; ECFS Diagnostic Network Working Group. J Cyst Fibros. 2022 May;21(3):434-441. doi: 10.1016/j.jcf.2022.01.004. Epub 2022 Jan 19.
- Cystic Fibrosis Defective Response to Infection Involves Autophagy and Lipid Metabolism. Mingione A, Ottaviano E, Barcella M, Merelli I, Rosso L, Armeni T, Cirilli N, Ghidoni R, Borghi E, Signorelli P. Cells. 2020 Aug 6;9(8):1845. doi: 10.3390/cells9081845.
- Cystic Fibrosis Mortality in Childhood. Data from European Cystic Fibrosis Society Patient Registry. Zolin A, Bossi A, Cirilli N, Kashirskaya N, Padoan R.Int J Environ Res Public Health. 2018 Sep 15;15(9):2020. doi: 10.3390/ijerph15092020.
- Clinical expression of cystic fibrosis in a large cohort of Italian siblings. Terlizzi V, Lucarelli M, Salvatore D, Angioni A, Bisogno A, Braggion C, Buzzetti R, Carnovale V, Casciaro R, Castaldo G, Cirilli N, Collura M, Colombo C, Di Lullo AM, Elce A, Lucidi V, Madarena E, Padoan R, Quattrucci S, Raia V, Seia M, Termini L, Zarrilli F.BMC Pulm Med. 2018 Dec 22;18(1):196. doi: 10.1186/s12890-018-0766-6.
- Clinical expression of patients with the D1152H CFTR mutation. Terlizzi V, Carnovale V, Castaldo G, Castellani C, Cirilli N, Colombo C, Corti F, Cresta F, D'Adda A, Lucarelli M, Lucidi V, Macchiaroli A, Madarena E, Padoan R, Quattrucci S, Salvatore D, Zarrilli F, Raia V.J Cyst Fibros. 2015 Jul;14(4):447-52. doi: 10.1016/j.jcf.2014.12.012. Epub 2015 Jan 10.
- May the new suggested lower borderline limit of sweat chloride impact the diagnostic process for cystic fibrosis? Cirilli N, Braggion C, Mergni G, Polizzi AM, Padoan R, Sirianni S, Seia M, Raia V, Tosco A, Pisi G, Spaggiari C, Quattromano E, Bignamini E, Brandino D, Bella S, Argentini R; ICFS Sweat Test Working Group.J Pediatr. 2018 Mar;194:261-262. doi: 10.1016/j.jpeds.2017.11.053.
- Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis. Sofia VM, Surace C, Terlizzi V, Da Sacco L, Alghisi F, Angiolillo A, Braggion C, Cirilli N, Colombo C, Di Lullo A, Padoan R, Quattrucci S, Raia V, Tuccio G, Zarrilli F, Tomaiuolo AC, Novelli A, Lucidi V, Lucarelli M, Castaldo G, Angioni A. Mol Med. 2018 Jul 27;24(1):38. doi: 10.1186/s10020-018-0041-6.
- Intra-individual biological variation in sweat chloride concentrations in CF, CFTR dysfunction, and healthy pediatric subjects. Cirilli N, Raia V, Rocco I, De Gregorio F, Tosco A, Salvadori L, Sepe AO, Buzzetti R, Minicuci N, Castaldo G. Pediatr Pulmonol. 2018 Jun;53(6):728-734. doi: 10.1002/ppul.23992.
- Detection of viable but non-culturable Pseudomonas aeruginosa in cystic fibrosis by qPCR: a validation study. Mangiaterra G, Amiri M, Di Cesare A, Pasquaroli S, Manso E, Cirilli N, Citterio B, Vignaroli C, Biavasco F.BMC Infect Dis. 2018 Dec 27;18(1):701. doi: 10.1186/s12879-018-3612-9.
- Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study. Padoan R, Cirilli N, Falchetti D, Cesana BM; Meconium Ileus Project Study Group.J Cyst Fibros. 2019 Nov;18(6):863-868. doi: 10.1016/j.jcf.2019.07.003.
- The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality? Salvatore M, Amato A, Floridia G, Censi F, Ferrari G, Tosto F, Padoan R, Raia V, Cirilli N, Castaldo G, Capoluongo E, Caruso U, Corbetta C, Taruscio D.Int J Environ Res Public Health. 2020 May 4;17(9):3196. doi: 10.3390/ijerph17093196
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