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