Loading...
Recherche
CARTOHAL
Mots clés
Adipokines
Pneumopathie interstitielle diffuse
Insulin resistance
Genetic analysis
France
Cilia
Aged
Autoimmunity
Adult
Colchicine
Interstitial lung disease
Situs inversus
Dynein
Biopsy
Interleukine 1
Infertility
Surfactant
Intellectual disability
Diagnosis
TNFRSF1A
SARS-CoV-2
Sarcoidosis
Cytokines
Pulmonary fibrosis
Pyrine
Rare lung diseases
Autoinflammatory disease
Fibrose pulmonaire
Male
Serum amyloid A
COVID-19
Phenotype
Autoinflammation
AA amyloidosis
Vasculitis
Amyloidosis
Fièvre méditerranéenne familiale
Cystic fibrosis
Common interstitial lung disease
Mortality
Inflammation
Biomarkers
Cohort
Idiopathic pulmonary fibrosis
Classification
Management
Mutations
Mutation
Autoinflammatory syndrome
Familial Mediterranean fever
Paediatric interstitial lung disease
A20 haploinsufficiency
Male infertility
MEFV
Female
Maladies auto-inflammatoires
Pulmonary hypertension
Primary ciliary dyskinesia
Bronchiectasis
Adolescent
Atherosclerosis
GHRHR
Androgens
Humans
Mosaic
Lipodystrophy
Human
Airways
Lung function
Children
CRISPR-Cas9
Adrenal tumors
TNFAIP3
TCF4
Infant
Genetics
Founder effect
CCDC39
Dynein arm assembly
Turner syndrome
AL amyloidosis
NGS
Inflammasome
Osteosarcoma
PCD
TRAPS
Genetic counselling
Premature ovarian insufficiency
ABCA3
Amylose AA
Kartagener syndrome
Rare diseases
Allergic bronchopulmonary aspergillosis
Biopsie
Pyrin
NLRP3
Pregnancy
Pituitary
Familial mediterranean fever
Derniers dépôts
-
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⟩
-
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⟩
-
Farah Diab, Camille Louvrier, Marc Fabre, Mira Rabbaa, Aphrodite Daskalopoulou, et al.. Expression tardive d’une maladie autoinflammatoire : identification et caractérisation fonctionnelle d’une variation de NLRC4 en mosaïque. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France. ⟨inserm-04405530⟩
-
Iulia Potorac, Jean-François Bonneville, Adrian F Daly, Wouter de Herder, Patricia Fainstein-Day, et al.. Pituitary MRI Features in Acromegaly Resulting From Ectopic GHRH Secretion From a Neuroendocrine Tumor: Analysis of 30 Cases. Journal of Clinical Endocrinology and Metabolism, 2023, 107 (8), pp.e3313 - e3320. ⟨10.1210/clinem/dgac274⟩. ⟨inserm-04042292⟩