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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. Terlizzi V, et al. Among authors: fabrizzi b. J Cyst Fibros. 2021 Sep;20(5):828-834. doi: 10.1016/j.jcf.2021.03.015. Epub 2021 Apr 18. J Cyst Fibros. 2021. PMID: 33883100 Free article.
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. Sette G, et al. Among authors: fabrizzi b. Eur Respir J. 2021 Dec 2;58(6):2100908. doi: 10.1183/13993003.00908-2021. Print 2021 Dec. Eur Respir J. 2021. PMID: 34413153 Free PMC article.
Triple Therapy for Cystic Fibrosis Phe508del-Gating and -Residual Function Genotypes.
Barry PJ, Mall MA, Álvarez A, Colombo C, de Winter-de Groot KM, Fajac I, McBennett KA, McKone EF, Ramsey BW, Sutharsan S, Taylor-Cousar JL, Tullis E, Ahluwalia N, Jun LS, Moskowitz SM, Prieto-Centurion V, Tian S, Waltz D, Xuan F, Zhang Y, Rowe SM, Polineni D; VX18-445-104 Study Group. Barry PJ, et al. N Engl J Med. 2021 Aug 26;385(9):815-825. doi: 10.1056/NEJMoa2100665. N Engl J Med. 2021. PMID: 34437784 Free PMC article. Clinical Trial.
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. Terlizzi V, et al. Among authors: fabrizzi b. Pediatr Pulmonol. 2021 Dec;56(12):3785-3791. doi: 10.1002/ppul.25683. Epub 2021 Sep 29. Pediatr Pulmonol. 2021. PMID: 34549893
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. Tosco A, et al. Among authors: fabrizzi b. J Cyst Fibros. 2022 Sep;21(5):850-855. doi: 10.1016/j.jcf.2022.04.020. Epub 2022 May 4. J Cyst Fibros. 2022. PMID: 35523714
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. Dolce D, et al. Among authors: fabrizzi b. J Cyst Fibros. 2023 Jan;22(1):73-78. doi: 10.1016/j.jcf.2022.07.007. Epub 2022 Jul 20. J Cyst Fibros. 2023. PMID: 35869019
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
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. Gramegna A, et al. Among authors: fabrizzi b. Respir Med. 2023 Dec;220:107455. doi: 10.1016/j.rmed.2023.107455. Epub 2023 Nov 3. Respir Med. 2023. PMID: 37926181 Free article.
Role of viable but non culturable cells in patients with cystic fibrosis in the era of highly effective modulator therapy.
Cirilli N, Schiavoni V, Tagliabracci V, Gesuita R, Tiano L, Fabrizzi B, D'Antuono A, Peruzzi A, Cedraro N, Carle F, Moretti M, Ferrante L, Vignaroli C, Biavasco F, Mangiaterra G. Cirilli N, et al. Among authors: fabrizzi b. J Cyst Fibros. 2024 Feb 28:S1569-1993(24)00026-2. doi: 10.1016/j.jcf.2024.02.013. Online ahead of print. J Cyst Fibros. 2024. PMID: 38423895 Free article.
Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study.
Flume PA, Biner RF, Downey DG, Brown C, Jain M, Fischer R, De Boeck K, Sawicki GS, Chang P, Paz-Diaz H, Rubin JL, Yang Y, Hu X, Pasta DJ, Millar SJ, Campbell D, Wang X, Ahluwalia N, Owen CA, Wainwright CE; VX14-661-110 study group. Flume PA, et al. Lancet Respir Med. 2021 Jul;9(7):733-746. doi: 10.1016/S2213-2600(20)30510-5. Epub 2021 Feb 10. Lancet Respir Med. 2021. PMID: 33581080
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. Vella A, et al. Among authors: fabrizzi b. Cancers (Basel). 2020 Mar 5;12(3):597. doi: 10.3390/cancers12030597. Cancers (Basel). 2020. PMID: 32150944 Free PMC article.
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.
Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G, Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher G; Italian Pheochromocytoma/Paraganglioma Network. Mannelli M, et al. J Clin Endocrinol Metab. 2009 May;94(5):1541-7. doi: 10.1210/jc.2008-2419. Epub 2009 Feb 17. J Clin Endocrinol Metab. 2009. PMID: 19223516 Free article.