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CARTOHAL
Mots clés
Mutations
Adipokines
Premature ovarian insufficiency
Female
Autoinflammatory syndrome
COVID-19
Fièvre méditerranéenne familiale
Interleukine 1
MEFV
Infertility
Vasculitis
Inflammation
Classification
NLRP3
Mosaic
Aged
Airways
Surfactant
Amyloidosis
Insulin resistance
Pyrine
TNFRSF1A
Mutation
Androgens
Familial Mediterranean fever
PCD
Adrenal tumors
Genetics
Cilia
Genetic counselling
Autoinflammation
Common interstitial lung disease
Atherosclerosis
Sarcoidosis
TNFAIP3
TRAPS
Male
Diagnosis
Lipodystrophy
Primary ciliary dyskinesia
Humans
Dynein arm assembly
Adult
Pregnancy
Bronchiectasis
Idiopathic pulmonary fibrosis
Adolescent
Rare diseases
Colchicine
Serum amyloid A
TCF4
Amylose AA
Situs inversus
Turner syndrome
A20 haploinsufficiency
Genetic analysis
Biopsie
Allergic bronchopulmonary aspergillosis
Mortality
Interstitial lung disease
Biomarkers
Autoinflammatory disease
Phenotype
Paediatric interstitial lung disease
CCDC39
Pulmonary fibrosis
AL amyloidosis
Familial mediterranean fever
Children
Lung function
Inflammasome
Intellectual disability
Cohort
AA amyloidosis
CRISPR-Cas9
Pyrin
France
Pneumopathie interstitielle diffuse
Autoimmunity
Cystic fibrosis
Pulmonary hypertension
Rare lung diseases
Kartagener syndrome
Pituitary
SARS-CoV-2
Biopsy
GHRHR
Cytokines
ABCA3
Male infertility
Infant
Founder effect
Maladies auto-inflammatoires
Management
Dynein
Osteosarcoma
NGS
Fibrose pulmonaire
Human
Derniers dépôts
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Lucie Thomas, Laurence Cuisset, Jean-François 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. The European Society of Human Genetics, Jun 2024, Berlin (DE), Germany. ⟨inserm-04614713⟩
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Julien Bermudez, Nadia Nathan, Benjamin Coiffard, Antoine Roux, Sandrine Hirschi, et al.. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system. ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩. ⟨hal-04517578⟩
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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⟩
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