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