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