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Exploitation of a Very Small Peptide Nucleic Acid as a New Inhibitor of miR-509-3p Involved in the Regulation of Cystic Fibrosis Disease-Gene Expression.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Exploitation of a Very Small Peptide Nucleic Acid as a New Inhibitor of miR-509-3p Involved in the Regulation of Cystic Fibrosis Disease-Gene Expression.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/610718
- By:
- Publication type:
- Article
An Update on Laboratory Diagnosis of Liver Inherited Diseases.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/697940
- By:
- Publication type:
- Article
The Immune Response to SARS-CoV-2 Vaccine in a Cohort of Family Pediatricians from Southern Italy.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 11, p. 1447, doi. 10.3390/cells12111447
- By:
- Publication type:
- Article
Genetic Diseases That Predispose to Early Liver Cirrhosis.
- Published in:
- International Journal of Hepatology, 2014, p. 1, doi. 10.1155/2014/713754
- By:
- Publication type:
- Article
Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis.
- Published in:
- Molecules, 2017, v. 22, n. 7, p. 1144, doi. 10.3390/molecules22071144
- By:
- Publication type:
- Article
Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype.
- Published in:
- Antibiotics (2079-6382), 2021, v. 10, n. 7, p. 828, doi. 10.3390/antibiotics10070828
- By:
- Publication type:
- Article
The MBL2 genotype relates to COVID-19 severity and may help to select the optimal therapy.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 12, p. 2143, doi. 10.1515/cclm-2023-0183
- By:
- Publication type:
- Article
The friendly use of chloroquine in the COVID-19 disease: a warning for the G6PD-deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 7, p. 1162, doi. 10.1515/cclm-2020-0442
- By:
- Publication type:
- Article
MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 3, p. e73, doi. 10.1515/cclm-2014-0465
- By:
- Publication type:
- Article
Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 8, p. 1289, doi. 10.1515/CCLM.2011.637
- By:
- Publication type:
- Article
Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10358, doi. 10.3390/ijms241210358
- By:
- Publication type:
- Article
Comparative Analysis of a Human Neutralizing mAb Specific for SARS-CoV-2 Spike-RBD with Cilgavimab and Tixagevimab for the Efficacy on the Omicron Variant in Neutralizing and Detection Assays.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10053, doi. 10.3390/ijms241210053
- By:
- Publication type:
- Article
Interactions of Spike-RBD of SARS-CoV-2 and Platelet Factor 4: New Insights in the Etiopathogenesis of Thrombosis.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8562, doi. 10.3390/ijms22168562
- By:
- Publication type:
- Article
Congenital Diarrheal Disorders: An Updated Diagnostic Approach.
- Published in:
- International Journal of Molecular Sciences, 2012, v. 13, n. 4, p. 4168, doi. 10.3390/ijms13044168
- By:
- Publication type:
- Article
Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1178, doi. 10.3390/genes12081178
- By:
- Publication type:
- Article
Correction to: L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fbrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients
- Published in:
- Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02535-x
- By:
- Publication type:
- Article
L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
- Published in:
- Respiratory Research, 2023, v. 24, p. 1, doi. 10.1186/s12931-023-02516-0
- By:
- Publication type:
- Article
Serum galectin-3 and aldosterone: potential biomarkers of cardiac complications in patients with COVID-19.
- Published in:
- Minerva Endocrinology, 2022, v. 47, n. 3, p. 270, doi. 10.23736/S2724-6507.22.03789-7
- By:
- Publication type:
- Article
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 12, p. 2451, doi. 10.1002/ccr3.1879
- By:
- Publication type:
- Article
TAS2R38 is a novel modifier gene in patients with cystic fibrosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62747-9
- By:
- Publication type:
- Article
SARS-CoV-2 Subgenomic N (sgN) Transcripts in Oro-Nasopharyngeal Swabs Correlate with the Highest Viral Load, as Evaluated by Five Different Molecular Methods.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 288, doi. 10.3390/diagnostics11020288
- By:
- Publication type:
- Article
Cystic Fibrosis: The Sense of Smell.
- Published in:
- American Journal of Rhinology & Allergy, 2020, v. 34, n. 1, p. 35, doi. 10.1177/1945892419870450
- By:
- Publication type:
- Article
Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060448
- By:
- Publication type:
- Article
Impaired cholesterol metabolism in the mouse model of cystic fibrosis. A preliminary study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 1, p. 1, doi. 10.1371/journal.pone.0245302
- By:
- Publication type:
- Article
Letter to the Editor: Is there an Indication for Testing the Methylenetetrahydrofolate reductase A1298C Variant in Routine Clinical Settings?
- Published in:
- Annals of Clinical & Laboratory Science, 2021, v. 51, n. 2, p. 277
- By:
- Publication type:
- Article
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack.
- Published in:
- Medicina (1010660X), 2021, v. 57, n. 7, p. 1, doi. 10.3390/medicina57070723
- By:
- Publication type:
- Article
Assisting PNA transport through cystic fibrosis human airway epithelia with biodegradable hybrid lipid-polymer nanoparticles.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85549-z
- By:
- Publication type:
- Article
Corrigendum: Gut Microbiota Features in Young Children With Autism Spectrum Disorders.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
The relevance of prothrombotic genetic variants in women who experienced pregnancy loss or embryo implantation failure: A retrospective analysis of 1922 cases.
- Published in:
- International Journal of Gynecology & Obstetrics, 2024, v. 165, n. 1, p. 148, doi. 10.1002/ijgo.15282
- By:
- Publication type:
- Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
- Published in:
- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
- By:
- Publication type:
- Article
SARS-CoV-2: One Year in the Pandemic. What Have We Learned, the New Vaccine Era and the Threat of SARS-CoV-2 Variants.
- Published in:
- Biomedicines, 2021, v. 9, n. 6, p. 611, doi. 10.3390/biomedicines9060611
- By:
- Publication type:
- Article
Haemophilia A: the consequences of de novo mutations. Two case reports.
- Published in:
- Blood Transfusion (17232007), 2018, v. 16, n. 4, p. 392, doi. 10.2450/2017.0292-16
- By:
- Publication type:
- Article
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 742, doi. 10.1002/humu.23741
- By:
- Publication type:
- Article
Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 23, p. 6900, doi. 10.3390/jcm11236900
- By:
- Publication type:
- Article
Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 1008, doi. 10.3390/jcm9041008
- By:
- Publication type:
- Article
Lung Microbiome in Cystic Fibrosis.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 2, p. 94, doi. 10.3390/life11020094
- By:
- Publication type:
- Article
ACE2: The Major Cell Entry Receptor for SARS-CoV-2.
- Published in:
- Lung, 2020, v. 198, n. 6, p. 867, doi. 10.1007/s00408-020-00408-4
- By:
- Publication type:
- Article
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1957, doi. 10.1002/ajmg.a.35414
- By:
- Publication type:
- Article
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1656
- By:
- Publication type:
- Article
Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).
- Published in:
- 2015
- By:
- Publication type:
- Editorial