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