From Substrate to Fragments to Inhibitor Active In Vivo against Staphylococcus aureus
Muriel Gelin
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Julie Paoletti
,
Marie-Anne Nahori
,
Valeŕie Huteau
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Clarisse Leseigneur
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et al.
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hal-02573173v1
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In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis
Clémence Gorlier
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Jérémie Sellam
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Ludivine Laurans
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Tabassome Simon
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Irina Giurgea
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et al.
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hal-03028145v1
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Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities
Catherine Dong
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Bertrand Condat
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Magalie Picon-Coste
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Yves Chrétien
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Pascal Potier
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et al.
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hal-03136120v1
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Muscle Injury Induces Postoperative Cognitive Dysfunction
Lorna Guéniot
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Victoria Lepere
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Gabriela Ferreira de Medeiros
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Anne Danckaert
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Patricia Flamant
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et al.
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inserm-02503658v1
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Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases
Camille Vatier
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Marie-Christine Vantyghem
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Caroline Storey
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Isabelle Jéru
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Sophie Christin-Maitre
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et al.
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hal-02272036v1
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Prognostic Value of Hyponatremia During Acute Painful Episodes in Sickle Cell Disease
Jean-Simon Rech
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Kan Yao
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Claude Bachmeyer
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Sophie Bailleul
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Orlando Javier
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et al.
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hal-03491244v1
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Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
Amelia Shoemark
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Bruna Rubbo
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Marie Legendre
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Mahmoud Fassad
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Eric Haarman
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et al.
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inserm-03791242v1
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RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose
A. Servais
,
S. Gueguen
,
D. Georges
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B.T. Aurélia
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L. Sandrine
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et al.
Congrès Société Francophone de Néphrologie, Dialyse et Transplantation (SFNDT) , Oct 2020, France, France. 16 (5), pp.302, 2020,
⟨10.1016/j.nephro.2020.07.147⟩
Conference poster
inserm-04056402v1
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AA Amyloidosis Secondary to Adult Onset Still's Disease: About 19 Cases
M. Delplanque
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J. Pouchot
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S. Ducharme-Bénard
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B.J Fautrel
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A. Benyamine
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et al.
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hal-03894255v1
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Specific changes in faecal microbiota are associated with familial Mediterranean fever
Samuel Deshayes
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Soraya Fellahi
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Jean-Philippe Bastard
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Jean-Marie Launay
,
Jacques Callebert
,
et al.
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hal-02291701v1
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
Ken Mcelreavey
,
Anne Jørgensen
,
Caroline Eozenou
,
Tiphanie Merel
,
Joelle Bignon-Topalovic
,
et al.
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pasteur-02376177v1
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Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer
Marie Legendre
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Afifaa Butt
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Raphaël Borie
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Marie-Pierre Debray
,
Diane Bouvry
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et al.
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inserm-03794264v1
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MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome
Valérie Bernard
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Bruno Donadille
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Tiphaine Le Poulennec
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Mariana Nedelcu
,
Laetitia Martinerie
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et al.
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hal-02948831v1
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Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation
Hussein Majdoub
,
Serge Amselem
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Marie Legendre
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Shoshana Rath
,
Dani Bercovich
,
et al.
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hal-02180531v1
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TTC12 loss-of-function mutations cause primary Ciliary Dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella
Lucie Thomas
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Khaled Bouhouche
,
Marjorie Whitfield
,
Guillaume Thouvenin
,
Andre Coste
,
et al.
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hal-02456263v1
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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling
Alice Lepelley
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Maria José Martin-Niclos
,
Melvin Le Bihan
,
Joseph A. Marsh
,
Carolina Uggenti
,
et al.
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pasteur-02933253v1
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Hemodynamic and biological correlates of glomerular hyperfiltration in sickle cell patients before and under renin–angiotensin system blocker
Jean-Philippe Haymann
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Nadjib Hammoudi
,
Marine Livrozet
,
Aline Santin
,
Sarah Mattioni
,
et al.
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hal-03251659v1
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Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis
Leandro Batista
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Grégory Jouvion
,
Dominique Simon-Chazottes
,
Denis Houzelstein
,
Odile Burlen-Defranoux
,
et al.
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pasteur-02868603v1
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
Marcella Zollino
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Christiane Zweier
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Ingrid van Balkom
,
David Sweetser
,
Joseph Alaimo
,
et al.
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inserm-03798487v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
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Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
,
et al.
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hal-02347889v1
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Association of Vasculitis and Familial Mediterranean Fever
Salam Abbara
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Gilles Grateau
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Stéphanie Ducharme-Bénard
,
David Saadoun
,
Sophie Georgin-Lavialle
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hal-02122405v1
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Slug, a Cancer‐Related Transcription Factor, is Involved in Vascular Smooth Muscle Cell Transdifferentiation Induced by Platelet‐Derived Growth Factor‐BB During Atherosclerosis
Nahema Ledard
,
Alexandrine Liboz
,
Bertrand Blondeau
,
Mégane Babiak
,
Célia Moulin
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et al.
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hal-02448535v1
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ICG-001, an Inhibitor of the β-Catenin and cAMP Response Element-Binding Protein Dependent Gene Transcription, Decreases Proliferation but Enhances Migration of Osteosarcoma Cells
Geoffroy Danieau
,
Sarah Morice
,
Sarah Renault
,
Régis Brion
,
Kevin Biteau
,
et al.
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hal-04064240v1
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Gonad differentiation toward ovary
Sophie Lamothe
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Valérie Bernard
,
Sophie Christin-Maitre
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hal-03490495v1
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International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)
Amelia Shoemark
,
Mieke Boon
,
Christoph Brochhausen
,
Zuzanna Bukowy-Bieryllo
,
Maria de Santi
,
et al.
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inserm-03791167v1
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NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
Camille Louvrier
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Eman Assrawi
,
Elma El Khouri
,
Isabelle Melki
,
Bruno Copin
,
et al.
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inserm-03782874v1
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Autoinflammatory diseases: State of the art
Sophie Georgin-Lavialle
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Antoine Fayand
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François Rodrigues
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Claude Bachmeyer
,
Léa Savey
,
et al.
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hal-03486058v1
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Treatment of Idiopathic Pulmonary Fibrosis with Capsule or Tablet Formulations of Pirfenidone in the Real-Life French RaDiCo-ILD Cohort
Vincent Cottin
,
Sonia Guéguen
,
Hilario Nunes
,
Stéphane Jouneau
,
Bruno Crestani
,
et al.
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hal-03425736v1
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Epidemiology and Infection COVID-19: relationship between atmospheric temperature and daily new cases growth rate
Alexandre Rouen
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J. Adda
,
O. Roy
,
Eli Rogers
,
P. Lévy
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hal-02939034v1
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Exposure to inorganic particles in paediatric sarcoidosis: the PEDIASARC study
Nadia Nathan
,
Marie-Emeline Montagne
,
Odile Macchi
,
Paul-André Rosental
,
Simon Chauveau
,
et al.
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hal-03483878v1
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