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CARTOHAL
Mots clés
Inflammasome
AL amyloidosis
Male infertility
Amyloidosis
PCD
Diagnosis
Pulmonary fibrosis
Situs inversus
Classification
Atherosclerosis
Human
COVID-19
Genetic analysis
SARS-CoV-2
Female
NLRP3
Rare diseases
Mortality
Founder effect
Rare lung diseases
Surfactant
Cystic fibrosis
Pneumopathie interstitielle diffuse
Autoinflammation
Turner syndrome
Pregnancy
TNFRSF1A
Dynein
Fibrose pulmonaire
Cytokines
Adipokines
NGS
Colchicine
Phenotype
Paediatric interstitial lung disease
Pyrine
Adolescent
Pituitary
Infant
Inflammation
Autoimmunity
Common interstitial lung disease
Management
Insulin resistance
Mosaic
Maladies auto-inflammatoires
Familial Mediterranean fever
Cohort
Autoinflammatory syndrome
Mutations
Familial mediterranean fever
Idiopathic pulmonary fibrosis
Infertility
Primary ciliary dyskinesia
TCF4
Premature ovarian insufficiency
Biopsy
Interstitial lung disease
Adrenal tumors
Adult
Fièvre méditerranéenne familiale
Biopsie
TRAPS
Pyrin
CCDC39
Vasculitis
Dynein arm assembly
Allergic bronchopulmonary aspergillosis
Interleukine 1
Children
Aged
Biomarkers
Male
Serum amyloid A
Genetic counselling
AA amyloidosis
Humans
Amylose AA
Kartagener syndrome
Mutation
France
Lung function
Osteosarcoma
CRISPR-Cas9
ABCA3
Cilia
MEFV
Airways
GHRHR
Autoinflammatory disease
TNFAIP3
Genetics
Bronchiectasis
Intellectual disability
Lipodystrophy
Pulmonary hypertension
A20 haploinsufficiency
Sarcoidosis
Prognosis
Derniers dépôts
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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⟩