Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes
Adrien Bloch
,
Eli Rogers
,
Cynthia Nicolas
,
Tanguy Martin-Denavit
,
Miguel Monteiro
,
et al.
Journal articles
inserm-03780515v1
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The NLRP3 p.A441V mutation in cryopyrin-associated periodic syndrome pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a founder effect
Eman Assrawi
,
Fawaz Awad
,
Claire Jumeau
,
Sylvie Odent
,
Veronique Despert
,
et al.
ISSAID , Mar 2019, Genes, Italy
Conference poster
inserm-03952891v1
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Détresse respiratoire du nouveau-né à terme : place de la génétique en 2020.
Nadia Nathan
Congrès de Pneumologie et d’Allergologie Pédiatrique (CPAP) , Nov 2020, En Ligne, France
Conference papers
inserm-04155525v1
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Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis
Pierre-Régis Burgel
,
Anne Munck
,
Isabelle Durieu
,
Raphaël Chiron
,
Laurent Mely
,
et al.
Journal articles
hal-03704946v1
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Rapid Improvement after Starting Elexacaftor–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease
Pierre-Régis Burgel
,
Isabelle Durieu
,
Raphaël Chiron
,
Sophie Ramel
,
Isabelle Danner-Boucher
,
et al.
Journal articles
hal-03704955v1
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Usefulness of bronchoalveolar lavage in a French pediatric cohort with hypersensitivity pneumonitis
Stéphanie Wanin
,
Clara Malka-Ruimy
,
Antoine Deschildre
,
Nadia Nathan
,
Gabriel Reboux
,
et al.
Journal articles
hal-03537187v1
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Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne
Camille Louvrier
,
Fawaz Awad
,
Anne Cosnes
,
Elma El Khouri
,
Eman Assrawi
,
et al.
Conference papers
inserm-03845123v1
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Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis
Pierre-Régis Burgel
,
Anne Munck
,
Isabelle Durieu
,
Raphaël Chiron
,
Laurent Mely
,
et al.
Journal articles
hal-02451455v1
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Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage
Marie-Louise Frémond
,
Marie Legendre
,
Michael Fayon
,
Annick Clement
,
Emilie Filhol-Blin
,
et al.
Journal articles
pasteur-02376257v1
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OP0107 HETEROZYGOUS MUTATIONS IN COPA ARE ASSOCIATED WITH ENHANCED TYPE I INTERFERON SIGNALLING
Marie-Louise Frémond
,
Alice Lepelley
,
Carolina Uggenti
,
Maria José Martin-Niclos
,
Marine Depp
,
et al.
Conference papers
pasteur-03251879v1
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AA Amyloidosis in the Course of HIV Infection: A Report of 19 Cases Including 4 New French Cases and a Comprehensive Review of Literature
Paul Breillat
,
Valérie Pourcher
,
Samuel Deshayes
,
David Buob
,
Alexandre Cez
,
et al.
Journal articles
hal-03793618v1
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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency
Sarah Eskenazi
,
Anne Bachelot
,
Justine Hugon-Rodin
,
Genevieve Plu-Bureau
,
Anne Gompel
,
et al.
Journal articles
inserm-04006159v1
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Démarche diagnostique des PID chez l’enfant
Nadia Nathan
Congrès national de pneumologie de Tunisie , Dec 2019, Tunis, Tunisia
Conference papers
inserm-04155571v1
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State of the art session: Paediatric respiratory diseases. Interstitial lung disease
Nadia Nathan
European Respiratory Society (ERS) Congress , Sep 2019, Madrid, Spain
Conference papers
inserm-04155625v1
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AA amyloidosis of unknown origin in New-Caledonia with focus on the association with gout: a consecutive case series of 20 patients
Jean-Simon Rech
,
Nicolas Quirin
,
David Buob
,
Sophie Georgin-Lavialle
,
Gilles Grateau
,
et al.
Other publications
inserm-04050014v1
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AA amyloidosis associated with Fabry disease
Alexandre Terré
,
Bertrand Knebelmann
,
David Buob
,
Marion Rabant
,
Olivier Lidove
,
et al.
Journal articles
inserm-04050836v1
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Identification of IgG1 isotype phosphorylcholine antibodies for the treatment of inflammatory cardiovascular diseases
Margreet de Vries
,
Mark Ewing
,
Rob C.M. de Jong
,
Michael Macarthur
,
Jacco Karper
,
et al.
Journal articles
hal-03098220v1
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Unilateral nonhaemorrhagic adrenal infarction as a cause of abdominal pain during pregnancy
F. Chasseloup
,
N. Bourcigaux
,
S. Christin-Maitre
Journal articles
inserm-04047091v1
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stephanie Valence
,
Emmanuelle Cochet
,
Christelle Rougeot
,
Catherine Garel
,
Sandra Chantot-Bastaraud
,
et al.
Journal articles
hal-01932802v1
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Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France
Ines Elhani
,
Anael Dumont
,
Samuel Deshayes
,
Sophie Georgin-Lavialle
,
Irina Giurgea
,
et al.
Journal articles
inserm-03798471v1
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Interstitial lung diseases in children
Nadia Nathan
Egyptian Congress of pediatric Pulmonology , Jun 2021, En ligne, Egypt
Conference papers
inserm-04154978v1
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Impasses diagnostiques dans les PID
Nadia Nathan
Journée du CRMR des maladies respiratoires rares (RespiRare) , Jan 2021, En ligne (Paris), France
Conference papers
inserm-04155030v1
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Pregnancies and Turner syndrome
Sophie Christin-Maitre
13th Congress of the European Society of Gynecology (ESG) , Oct 2019, Vienna (Austria), Austria
Conference papers
inserm-04155615v1
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Health-related quality of life in infants and children with interstitial lung disease.
Nadia Nathan
ENTeR-chILD COST-action meeting , Sep 2019, Timosoara, Romania
Conference papers
inserm-04155708v1
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One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD)
Steve Cunningham
,
Catriona Graham
,
Morag Maclean
,
Paul Aurora
,
Michael Ashworth
,
et al.
Journal articles
inserm-04041233v1
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Cause of death and risk factors for mortality in AA amyloidosis: A French retrospective study
Alexandre Terré
,
Samuel Deshayes
,
Léa Savey
,
Gilles Grateau
,
Sophie Georgin-Lavialle
Other publications
inserm-04050698v1
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The Rare Disease Cohorts (RaDiCo) program: Set up and follow-up of national and international e-cohorts
Sonia GUEGUEN
,
Paul Landais
,
Annick Clement
,
Serge Amselem
World Conference on Rare Diseases (RARE2021) , Feb 2021, virtual event, France
Conference poster
inserm-04059764v1
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Atypical presentation of COVID-19 in young infants
Nadia Nathan
,
Blandine Prevost
,
Harriet Corvol
Journal articles
hal-03827783v1
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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
Elodie Fiot
,
Delphine Zenaty
,
Priscilla Boizeau
,
Jérémie Haignere
,
Sophie dos Santos
,
et al.
Journal articles
hal-02863454v1
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Heterozygous mutations in COPA are associated with enhanced type I interferon signalling
Marie-Louise Frémond
,
Alice Lepelley
,
Carolina Uggenti
,
Maria José Martin-Niclos
,
Marine Depp
,
et al.
International Society of Systemic Auto-Inflammatory Diseases , Mar 2019, Genes, Italy
Conference poster
inserm-03956476v1
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