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Recherche
CARTOHAL
Mots clés
TNFRSF1A
Adipokines
Fièvre méditerranéenne familiale
Colchicine
Pituitary
France
Mutation
AL amyloidosis
Osteosarcoma
Turner syndrome
Lipodystrophy
Atherosclerosis
Inflammation
Biopsy
Amyloidosis
Idiopathic pulmonary fibrosis
Phenotype
Serum amyloid A
Autoimmunity
NGS
Female
Adolescent
Insulin resistance
TNFAIP3
Human
NLRP3
ICSI
Pregnancy
Pulmonary hypertension
Founder effect
Paediatric interstitial lung disease
Prognosis
A20 haploinsufficiency
Male infertility
Humans
Common interstitial lung disease
Karyotype
Genetics
GHRHR
Autoinflammatory disease
Pulmonary fibrosis
Mortality
Familial Mediterranean fever
Pyrine
NLRC4
Amylose AA
Situs inversus
MEFV
PCD
Classification
Cystic fibrosis
Pneumopathie interstitielle diffuse
Dynein arm assembly
Premature ovarian insufficiency
Bronchiectasis
Sarcoidosis
Fibrose pulmonaire
Interleukine 1
Cilia
Mosaic
Autoinflammatory syndrome
Intellectual disability
Primary ciliary dyskinesia
Vasculitis
Children
TCF4
Familial mediterranean fever
Cytokines
Diagnosis
ABCA3
Biopsie
SARS-CoV-2
Inflammasome
Electron microscopy
COVID-19
Infertility
Male
Pyrin
TRAPS
Mutations
Genetic counselling
Adrenal tumors
Maladies auto-inflammatoires
Biomarkers
Rare lung diseases
CCDC39
Surfactant
AA amyloidosis
Management
Genetic analysis
Cohort
Autoinflammation
Kartagener syndrome
Infant
Dynein
Lung function
CRISPR-Cas9
Interstitial lung disease
Rare diseases
Derniers dépôts
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Farah Diab, Camille Louvrier, Marc Fabre, Mira Rabbaa, Aphrodite Daskalopoulou, et al.. Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany. ⟨inserm-04674678⟩
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Rahma Mani, Mafalda Gomes, Adrián Rodríguez González, Claire Hogg, Deborah Morris-Rosendahl, et al.. Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar. ERS International Congress 2021, in session “Prediction of exacerbations in patients with COPD”, Sep 2021, Online, United Kingdom. European Respiratory Society, pp.PA3458, ⟨10.1183/13993003.congress-2021.PA3458⟩. ⟨inserm-04121677v2⟩
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Marion Delplanque, Lionel Galicier, Eric Oziol, Stéphanie Ducharme-Bénard, Eric Oksenhendler, et al.. AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review. Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.745-752.e1. ⟨10.1016/j.jaip.2020.09.023⟩. ⟨inserm-04050271⟩
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Nadia Nathan, Blandine Prevost, Sidonie Lambert, Aurélie Schnuriger, Harriet Corvol. Severe Acute Respiratory Syndrome Coronavirus 2 Variant Delta Infects All 6 Siblings but Spares Comirnaty (BNT162b2, BioNTech/Pfizer)-Vaccinated Parents. Journal of Infectious Diseases, 2021, 224 (11), pp.1984-1986. ⟨10.1093/infdis/jiab410⟩. ⟨hal-03827740⟩
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Marie‐hélène Odièvre, Charles Marcellus, Hubert Ducou Le Pointe, Slimane Allali, Anne‐sophie Romain, et al.. Dramatic improvement after tocilizumab of severe COVID ‐19 in a child with sickle cell disease and acute chest syndrome. American Journal of Hematology, 2020, 95 (8), ⟨10.1002/ajh.25855⟩. ⟨hal-03827781⟩
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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⟩