Detalhe da pesquisa
1.
Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.
Eur J Pediatr
; 183(2): 929-938, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38054992
2.
The Italian Society of Rheumatology clinical practice guidelines for the management of large vessel vasculitis.
Reumatismo
; 73(4)2022 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35130681
3.
SARS-CoV-2 infection in patients with autoimmune rheumatic diseases in northeast Italy: A cross-sectional study on 916 patients.
J Autoimmun
; 112: 102502, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32527675
4.
Diagnostic and prognostic role of renal histopathology in rheumatic diseases.
Reumatismo
; 70(3): 165-177, 2018 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30282442
5.
Bickerstaff's brainstem encephalitis: case report and Tc99m brain SPECT findings.
Neurol Sci
; 32(6): 1153-6, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21556870
6.
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.
Genes Immun
; 11(8): 665-70, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20927127
7.
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
Thorax
; 64(8): 683-91, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19318346
8.
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.
Clin Genet
; 73(4): 346-52, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18279436
9.
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
J Med Genet
; 44(10): 609-14, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17526799
10.
Hidden CFSPID in CF patient registries? The Italian CF Registry experience.
J Cyst Fibros
; 22(6): 1128-1129, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37544776
11.
A case-control study on pregnancy in Italian Cystic Fibrosis women. Data from the Italian Registry.
Respir Med
; 145: 200-205, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30509709
12.
Detection of KI WU and Merkel cell polyomavirus in respiratory tract of cystic fibrosis patients.
Clin Microbiol Infect
; 21(6): 603.e9-15, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25677628
13.
Ceftazidime monotherapy vs. combined therapy in Pseudomonas pulmonary infections in cystic fibrosis.
Pediatr Infect Dis J
; 6(7): 648-53, 1987 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-3302917
14.
Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.
J Med Screen
; 9(2): 60-3, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-12133923
15.
Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study).
J Pediatr Endocrinol Metab
; 13(8): 1087-93, 2000.
Artigo
Inglês
| MEDLINE | ID: mdl-11085186
16.
Otorhinolaringologic manifestation of Smith-Magenis syndrome.
Int J Pediatr Otorhinolaryngol
; 59(2): 147-50, 2001 Jun 07.
Artigo
Inglês
| MEDLINE | ID: mdl-11378192
17.
[Italian Cystic Fibrosis Registry: 10 years of activity]. / Registro Italiano Fibrosi Cistica: 10 anni di attività.
Epidemiol Prev
; 23(1): 5-16, 1999.
Artigo
Italiano
| MEDLINE | ID: mdl-10356860
18.
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).
Neurol Res
; 32(1): 41-6, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20092694
19.
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
Hum Mutat
; 16(6): 532-3, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11102992
20.
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
Hum Mutat
; 15(5): 485, 2000 May.
Artigo
Inglês
| MEDLINE | ID: mdl-10790222