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