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