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