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