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