Detalhe da pesquisa
1.
[Italian Cystic Fibrosis Registry (ICFR). Report 2021-2022]. / Registro Italiano Fibrosi Cistica (RIFC). Rapporto 2021-2022.
Epidemiol Prev
; 48(2 Suppl 2): 1-41, 2024.
Artigo
em Italiano
| MEDLINE | ID: mdl-38742380
2.
Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
Eur J Pediatr
; 182(12): 5275-5283, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725210
3.
[Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2019-2020.
Epidemiol Prev
; 46(4 Suppl 2): 1-38, 2022.
Artigo
em Italiano
| MEDLINE | ID: mdl-36102313
4.
Perinatal outcomes in women with cystic fibrosis: Data from the Italian Cystic Fibrosis Registry.
Acta Obstet Gynecol Scand
; 100(8): 1439-1444, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028004
5.
[Italian Cystic Fibrosis Registry (ICFR). Report 2017-2018]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2017-2018.
Epidemiol Prev
; 45(3 Suppl 1): 1-37, 2021.
Artigo
em Italiano
| MEDLINE | ID: mdl-34132083
6.
[Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2015-2016.
Epidemiol Prev
; 43(4S1): 1-36, 2019.
Artigo
em Italiano
| MEDLINE | ID: mdl-31370382
7.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
J Med Genet
; 54(4): 224-235, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27738188
8.
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
BMC Pulm Med
; 18(1): 196, 2018 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577776
9.
Reduced absorption and enhanced synthesis of cholesterol in patients with cystic fibrosis: a preliminary study of plasma sterols.
Clin Chem Lab Med
; 54(9): 1461-6, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913457
10.
Combining Clinical Trial and Patient Registry Data in Cystic Fibrosis: Who Should Be Compared?
Am J Respir Crit Care Med
; 195(3): 404-405, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145755
11.
Elexacaftor/Tezacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation and Advanced Lung Disease: A 48-Week Observational Study.
J Clin Med
; 11(4)2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207295
12.
Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.
J Cyst Fibros
; 21(5): 850-855, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35523714
13.
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
Respir Med
; 192: 106736, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032736
14.
Elexacaftor/tezacaftor/ivacaftor as rescue therapy in a patient with the cystic fibrosis genotype F508DEL/G1244E.
Clin Case Rep
; 9(8): e04713, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34466263
15.
The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry.
Diagnostics (Basel)
; 11(2)2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669477
16.
Cystic fibrosis with non-G551D gating mutations in Italy: Epidemiology and clinical characteristics.
Pediatr Pulmonol
; 56(2): 442-449, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219628
17.
Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype.
Antibiotics (Basel)
; 10(7)2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356748
18.
Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry.
Pediatr Pulmonol
; 56(10): 3232-3241, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357699
19.
Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype.
Respir Med
; 189: 106646, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34673344
20.
Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease.
Genes (Basel)
; 12(8)2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440351