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Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2024, v. 210, n. 4, p. 401, doi. 10.1164/rccm.202401-0238SO
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- Article
Successful atorvastatin treatment of pulmonary alveolar proteinosis in a child with GM‐CSF receptor deficiency.
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- Pediatric Pulmonology, 2024, v. 59, n. 6, p. 1777, doi. 10.1002/ppul.26946
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- Article
Imaging of pulmonary fibrosis in children: A review, with proposed diagnostic criteria.
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- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 845, doi. 10.1002/ppul.26857
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- Article
Estimating the effect of nintedanib on forced vital capacity in children and adolescents with fibrosing interstitial lung disease using a Bayesian dynamic borrowing approach.
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- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 1038, doi. 10.1002/ppul.26882
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- Publication type:
- Article
Single-centre prospective evaluation of the first 5 years of cystic fibrosis newborn screening in Germany.
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- ERJ Open Research, 2024, v. 10, n. 2, p. 1, doi. 10.1183/23120541.00699-2023
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- Article
Emerging Treatments for Childhood Interstitial Lung Disease.
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- Pediatric Drugs, 2024, v. 26, n. 1, p. 19, doi. 10.1007/s40272-023-00603-9
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- Article
Lung transplantation outcome in adult surfactant-related interstitial lung disease: first evidence to move on.
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- ERJ Open Research, 2023, v. 9, n. 6, p. 1, doi. 10.1183/23120541.00646-2023
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- Article
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
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- Pediatric Pulmonology, 2023, v. 58, n. 11, p. 3095, doi. 10.1002/ppul.26627
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- Article
ABCA3 Deficiency—Variant-Specific Response to Hydroxychloroquine.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8179, doi. 10.3390/ijms24098179
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- Article
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7554, doi. 10.3390/ijms24087554
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- Article
Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!
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- Pediatric Pulmonology, 2023, v. 58, n. 4, p. 1106, doi. 10.1002/ppul.26301
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- Article
Diagnostic workup of childhood interstitial lung disease.
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- European Respiratory Review, 2023, v. 32, n. 167, p. 1, doi. 10.1183/16000617.0188-2022
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- Article
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.
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- Diagnostics (2075-4418), 2022, v. 12, n. 12, p. 2928, doi. 10.3390/diagnostics12122928
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- Article
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1029423
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- Article
Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases.
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- 2022
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- Publication type:
- journal article
Genetic testing in interstitial lung disease: An international survey.
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- Respirology, 2022, v. 27, n. 9, p. 747, doi. 10.1111/resp.14303
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- Article
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02399-2
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- Article
Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease.
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- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071653
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- Publication type:
- Article
High-content screen identifies cyclosporin A as a novel ABCA3-specific molecular corrector.
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- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 4, p. E1, doi. 10.1165/rcmb.2021-0223oc
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- Publication type:
- Article
High-Content Screening Identifies Cyclosporin A as a Novel ABCA3-Specific Molecular Corrector.
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- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 4, p. 382, doi. 10.1165/rcmb.2021-0223OC
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- Article
Etiologic Classification of Diffuse Parenchymal (Interstitial) Lung Diseases.
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- Journal of Clinical Medicine, 2022, v. 11, n. 6, p. 1747, doi. 10.3390/jcm11061747
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- Article
Interstitial lung disease in infancy and early childhood: a clinicopathological primer.
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- European Respiratory Review, 2022, v. 31, n. 163, p. 1, doi. 10.1183/16000617.0251-2021
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- Article
Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long‐term bridging to hematopoietic stem cell transplantation.
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- Pediatric Pulmonology, 2022, v. 57, n. 1, p. 273, doi. 10.1002/ppul.25728
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- Article
Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients.
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- Pediatric Pulmonology, 2021, v. 56, n. 12, p. 3934, doi. 10.1002/ppul.25684
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- Article
The improved clinical course of persistent tachypnea of infancy with inhaled bronchodilators and corticosteroids.
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- Pediatric Pulmonology, 2021, v. 56, n. 12, p. 3952, doi. 10.1002/ppul.25674
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- Article
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 453, doi. 10.1111/cge.14016
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- Article
Insights Into Patient Variability During Ivacaftor-Lumacaftor Therapy in Cystic Fibrosis.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.577263
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- Article
Hypersensitivity pneumonitis: Lessons from a randomized controlled trial in children.
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- Pediatric Pulmonology, 2021, v. 56, n. 8, p. 2627, doi. 10.1002/ppul.25513
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- Publication type:
- Article
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
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- Science Immunology, 2021, v. 6, n. 60, p. 1, doi. 10.1126/sciimmunol.abf9564
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- Article
Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor for 24 Weeks or Longer in People with Cystic Fibrosis and One or More Alleles: Interim Results of an Open-Label Phase 3 Clinical Trial.
- Published in:
- 2021
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- Publication type:
- clinical trial
Comorbidity and long‐term clinical outcome of laryngotracheal clefts types III and IV: Systematic analysis of new cases.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 1, p. 138, doi. 10.1002/ppul.25133
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- Article
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
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- Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3057, doi. 10.1002/ppul.25031
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- Article
Persistent tachypnea of infancy: Follow up at school age.
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- Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3119, doi. 10.1002/ppul.25004
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- Article
Pulmonary function testing in children's interstitial lung disease.
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- European Respiratory Review, 2020, v. 29, n. 157, p. 1, doi. 10.1183/16000617.0019-2020
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- Article
Variation in the bombesin staining of pulmonary neuroendocrine cells in pediatric pulmonary disorders—A useful marker for airway maturity.
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- Pediatric Pulmonology, 2020, v. 55, n. 9, p. 2383, doi. 10.1002/ppul.24910
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- Publication type:
- Article
Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial.
- Published in:
- 2020
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- Publication type:
- journal article
Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry‐based case series.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 4, p. 909, doi. 10.1002/ppul.24680
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- Publication type:
- Article
Lung ultrasound—a new diagnostic modality in persistent tachypnea of infancy.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 4, p. 1028, doi. 10.1002/ppul.24654
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- Publication type:
- Article
The therapeutic potential of inhaled-GM-CSF in severe a-PAP.
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- Pneumon, 2020, v. 33, n. 2, p. 90
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- Article
The unexpected clinical behavior of a-PAP.
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- Pneumon, 2020, v. 33, n. 2, p. 92
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- Publication type:
- Article
Postinfectious Bronchiolitis Obliterans in Children: Diagnostic Workup and Therapeutic Options: A Workshop Report.
- Published in:
- Canadian Respiratory Journal, 2020, p. 1, doi. 10.1155/2020/5852827
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- Article
Quantitative Lipidomics in Pulmonary Alveolar Proteinosis.
- Published in:
- 2019
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- Publication type:
- journal article
Lung disease in STAT3 hyper‐IgE syndrome requires intense therapy.
- Published in:
- Allergy, 2019, v. 74, n. 9, p. 1691, doi. 10.1111/all.13753
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- Publication type:
- Article
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
- Published in:
- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 8, p. 5225, doi. 10.1111/jcmm.14397
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- Publication type:
- Article
Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF).
- Published in:
- 2019
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- Publication type:
- journal article
Congenital Vertical Tracheal Septum Misdiagnosed as Laryngomalacia.
- Published in:
- 2019
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- Publication type:
- journal article
Development and validation of a health‐related quality of life questionnaire for pediatric patients with interstitial lung disease.
- Published in:
- Pediatric Pulmonology, 2018, v. 53, n. 7, p. 954, doi. 10.1002/ppul.24018
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- Publication type:
- Article
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 841, doi. 10.1002/humu.23416
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- Article
Pathogenesis, imaging and clinical characteristics of CF and non-CF bronchiectasis.
- Published in:
- 2018
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- Publication type:
- journal article
Assessment of the multiplex PCR-based assay Unyvero pneumonia application for detection of bacterial pathogens and antibiotic resistance genes in children and neonates.
- Published in:
- Infection, 2018, v. 46, n. 2, p. 189, doi. 10.1007/s15010-017-1088-y
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- Publication type:
- Article