Publications scientifiques
Voici les publications scientifiques relatives aux maladies respiratoires rares auxquelles les membres de la filière ont contribué, classées par groupes de pathologies (depuis juillet 2021).
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Hyperplasie des cellules neuroendocrines du nourrisson (NEHI)
FREnch National Cohort of Neuroendocrine Cell Hyperplasia of Infancy (FRENCHI): Long-Term Consequences and Risk Factors of Low Body Mass Index
Respiratory Medicine and Research 86 (novembre 2024): 101115
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Dyskinésies ciliaires primitives (DCP)
Qualitative Assessment of Sensations and Triggers in Chronic Cough
ERJ Open Research 10, nᵒ 2 (mars 2024): 00923‑02023
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Dyskinésies ciliaires primitives (DCP)
Definition of Sinonasal and Otologic Exacerbation in Patients with Primary Ciliary Dyskinesia – an Expert Consensus
Otolaryngology, mars 2024
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Dyskinésies ciliaires primitives (DCP)
Infertility and Pregnancy Outcomes among Adults with Primary Ciliary Dyskinesia
Human Reproduction Open 2024, nᵒ 3 (mai 2024): hoae039.
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Dyskinésies ciliaires primitives (DCP)
Skewed X-Chromosome Inactivation Drives the Proportion of DNAAF6-Defective Airway Motile Cilia and Variable Expressivity in Primary Ciliary Dyskinesia
Journal of Medical Genetics 61, nᵒ 6 (juin 2024): 595‑604
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Dyskinésies ciliaires primitives (DCP)
Priorities and Barriers for Research Related to Primary Ciliary Dyskinesia
ERJ Open Research 10, nᵒ 5 (septembre 2024): 00026‑02024
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Dyskinésies ciliaires primitives (DCP)
Associations between Respiratory Pathogens and Lung Function in Primary Ciliary Dyskinesia: Cross-Sectional Analysis from the PROVALF-PCD Cohort
ERJ Open Research 10, nᵒ 5 (30 septembre 2024)
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Déficit en alpha1-antitrypsine (DAAT)
Assessment and monitoring of lung disease in patients with severe alpha 1 antitrypsin deficiency: a european delphi consensus of the EARCO group
Respiratory Research 25, nᵒ 1 (août 2024): 318
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Hypertension pulmonaire (HTP)
Pulmonary Hypertension Associated with Lung Diseases
European Respiratory Journal, juin 2024, 2401200
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Pneumopathies interstitielles diffuses (PID)
ERS Statement on Transition of Care in Childhood Interstitial Lung Diseases
European Respiratory Journal 64, nᵒ 2 (août 2024)