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CARTOHAL
Mots clés
Cystic fibrosis
Maladies auto-inflammatoires
Premature ovarian insufficiency
MEFV
Inflammation
TCF4
Adrenal tumors
Allergic bronchopulmonary aspergillosis
NLRP3
Biomarkers
Pregnancy
Classification
Pulmonary hypertension
Idiopathic pulmonary fibrosis
Aged
Adolescent
Primary ciliary dyskinesia
Paediatric interstitial lung disease
Children
Airways
Mosaic
Male infertility
AL amyloidosis
CRISPR-Cas9
Kartagener syndrome
Androgens
Insulin resistance
NGS
Vasculitis
Adipokines
Mortality
TNFAIP3
Intellectual disability
Pulmonary fibrosis
Mutation
Fièvre méditerranéenne familiale
Autoimmunity
Serum amyloid A
Infant
Amylose AA
Founder effect
Autoinflammatory disease
Common interstitial lung disease
Amyloidosis
Inflammasome
Biopsie
GHRHR
PCD
AA amyloidosis
Pituitary
ABCA3
A20 haploinsufficiency
Colchicine
Atherosclerosis
Management
Genetics
Adult
Fibrose pulmonaire
SARS-CoV-2
Pneumopathie interstitielle diffuse
TNFRSF1A
TRAPS
Familial Mediterranean fever
Cytokines
Autoinflammation
Phenotype
Bronchiectasis
Humans
Surfactant
COVID-19
Lipodystrophy
Dynein
France
CCDC39
Situs inversus
Lung function
Cohort
Biopsy
Genetic counselling
Female
Infertility
Familial mediterranean fever
Turner syndrome
Interleukine 1
Pyrine
Human
Rare lung diseases
Genetic analysis
Pyrin
Rare diseases
Osteosarcoma
Male
Diagnosis
Dynein arm assembly
Interstitial lung disease
Mutations
Autoinflammatory syndrome
Sarcoidosis
Cilia
Derniers dépôts
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Lucie Thomas, Laurence Cuisset, Jean-François Papon, Aline Tamalet, Isabelle Pin, et al.. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. The European Society of Human Genetics, Jun 2024, Berlin (DE), Germany. ⟨inserm-04614713⟩
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Julien Bermudez, Nadia Nathan, Benjamin Coiffard, Antoine Roux, Sandrine Hirschi, et al.. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system. ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩. ⟨hal-04517578⟩
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Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, et al.. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.177. ⟨10.1186/s13023-024-03173-2⟩. ⟨inserm-04562484⟩
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Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, et al.. Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. Journal of Medical Genetics, 2024, pp.jmg-2023-109700. ⟨10.1136/jmg-2023-109700⟩. ⟨inserm-04557687⟩
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Vincent Cottin, Philippe Bonniaud, Jacques Cadranel, Bruno Crestani, Stéphane Jouneau, et al.. French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis – 2021 update. Full-length version. Respiratory Medicine and Research, 2023, 83, pp.100948. ⟨10.1016/j.resmer.2022.100948⟩. ⟨hal-04087431⟩
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Muriel Le Bourgeois, Agnès Ferroni, Marianne Leruez-Ville, Emmanuelle Varon, Caroline Thumerelle, et al.. Nonsteroidal Anti-Inflammatory Drug without Antibiotics for Acute Viral Infection Increases the Empyema Risk in Children: A Matched Case-Control Study. The Journal of Pediatrics, 2016, 175, pp.47-53.e3. ⟨10.1016/j.jpeds.2016.05.025⟩. ⟨inserm-04152522⟩
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