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