Found: 26
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Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 4, p. 1253, doi. 10.1002/ppul.26323
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- Publication type:
- Article
Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome/CF screen‐positive, inconclusive diagnosis.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 12, p. 3785, doi. 10.1002/ppul.25683
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- Publication type:
- Article
Long‐term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 6, p. 1806, doi. 10.1002/ppul.25334
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- Publication type:
- Article
Glucose Tolerance Stages in Cystic Fibrosis Are Identified by a Unique Pattern of Defects of Beta-Cell Function.
- Published in:
- 2021
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- Publication type:
- journal article
Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 12, p. 5275, doi. 10.1007/s00431-023-05193-9
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- Publication type:
- Article
Intra-individual biological variation in sweat chloride concentrations in CF, CFTR dysfunction, and healthy pediatric subjects.
- Published in:
- Pediatric Pulmonology, 2018, v. 53, n. 6, p. 728, doi. 10.1002/ppul.23992
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- Publication type:
- Article
Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis.
- Published in:
- Molecular & Cellular Pediatrics, 2016, v. 3, n. 1, p. 1, doi. 10.1186/s40348-016-0040-z
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- Publication type:
- Article
Potential Celiac Patients: A Model of Celiac Disease Pathogenesis.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021281
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- Publication type:
- Article
Impact of CFTR Modulators on Beta-Cell Function in Children and Young Adults with Cystic Fibrosis.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4149, doi. 10.3390/jcm11144149
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- Publication type:
- Article
A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.
- Published in:
- EMBO Journal, 2019, v. 38, n. 2, p. N.PAG, doi. 10.15252/embj.2018100101
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- 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
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- Publication type:
- Article
The STING/TBK1/IRF3/IFN type I pathway is defective in cystic fibrosis.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1093212
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- Publication type:
- Article
A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.
- Published in:
- Children, 2023, v. 10, n. 2, p. 177, doi. 10.3390/children10020177
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- Publication type:
- Article
Pseudo‐Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Autophagy suppresses the pathogenic immune response to dietary antigens in cystic fibrosis.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 4, p. 1, doi. 10.1038/s41419-019-1500-x
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- Publication type:
- Article
Cysteamine re-establishes the clearance of Pseudomonas aeruginosa by macrophages bearing the cystic fibrosis-relevant F508del-CFTR mutation.
- Published in:
- Cell Death & Disease, 2017, v. 8, n. 1, p. e2544, doi. 10.1038/cddis.2016.476
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- Publication type:
- Article
Discriminant Score for Celiac Disease Based on Immunohistochemical Analysis of Duodenal Biopsies.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 5, p. 621, doi. 10.1097/MPG.0000000000000675
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- Publication type:
- Article
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 12, p. 1080, doi. 10.3390/diagnostics10121080
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- Publication type:
- Article
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 570, doi. 10.3390/diagnostics10080570
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- Publication type:
- Article
Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0351-2
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- Publication type:
- Article
A complicated association between two different genetic rare disorders: cystic fibrosis and spinal muscular atrophy.
- Published in:
- Minerva Pediatrics, 2022, v. 74, n. 6, p. 797, doi. 10.23736/S2724-5276.19.05614-7
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- Publication type:
- Article
Renal involvement in cystic fibrosis: is it a contraindication to transplant?
- Published in:
- Minerva Pediatrics, 2022, v. 74, n. 5, p. 610, doi. 10.23736/S2724-5276.19.05681-0
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- Publication type:
- Article
Methicillin-resistant Staphylococcus aureus eradication in cystic fibrosis patients: A randomized multicenter study.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213497
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- Publication type:
- Article
Diabetes outbreak during COVID19 lock-down in a prediabetic patient with cystic fibrosis long treated with glargine.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01076-7
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- Publication type:
- Article
Potential Celiac Children: 9-Year Follow-Up on a Gluten-Containing Diet.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2014, v. 109, n. 6, p. 913, doi. 10.1038/ajg.2014.77
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- Publication type:
- Article
Clinical, HLA, and Small Bowel Immunohistochemical Features of Children with Positive Serum Antiendomysium Antibodies and Architecturally Normal Small Intestinal Mucosa.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 10, p. 2294, doi. 10.1111/j.1572-0241.2005.41134.x
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- Publication type:
- Article