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From Substrate to Fragments to Inhibitor Active In Vivo against Staphylococcus aureus

Muriel Gelin , Julie Paoletti , Marie-Anne Nahori , Valeŕie Huteau , Clarisse Leseigneur , et al.
ACS Infectious Diseases, 2020, 6 (3), ⟨10.1021/acsinfecdis.9b00368⟩
Journal articles hal-02573173v1
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In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis

Clémence Gorlier , Jérémie Sellam , Ludivine Laurans , Tabassome Simon , Irina Giurgea , et al.
Innate Immunity, 2019, 25 (8), pp.487-490. ⟨10.1177/1753425919870847⟩
Journal articles hal-03028145v1
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Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities

Catherine Dong , Bertrand Condat , Magalie Picon-Coste , Yves Chrétien , Pascal Potier , et al.
JHEP Reports Innovation in Hepatology, 2021, 3 (2), pp.100201. ⟨10.1016/j.jhepr.2020.100201⟩
Journal articles hal-03136120v1
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Muscle Injury Induces Postoperative Cognitive Dysfunction

Lorna Guéniot , Victoria Lepere , Gabriela Ferreira de Medeiros , Anne Danckaert , Patricia Flamant , et al.
Scientific Reports, 2020, 10 (1), pp.2768. ⟨10.1038/s41598-020-59639-3⟩
Journal articles inserm-02503658v1
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Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases

Camille Vatier , Marie-Christine Vantyghem , Caroline Storey , Isabelle Jéru , Sophie Christin-Maitre , et al.
Current Medical Research and Opinion, 2019, 35 (3), pp.543-552. ⟨10.1080/03007995.2018.1533459⟩
Journal articles hal-02272036v1
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Prognostic Value of Hyponatremia During Acute Painful Episodes in Sickle Cell Disease

Jean-Simon Rech , Kan Yao , Claude Bachmeyer , Sophie Bailleul , Orlando Javier , et al.
The American Journal of Medicine, 2020, 133, pp.e465 - e482. ⟨10.1016/j.amjmed.2020.02.017⟩
Journal articles hal-03491244v1
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Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Amelia Shoemark , Bruna Rubbo , Marie Legendre , Mahmoud Fassad , Eric Haarman , et al.
European Respiratory Journal, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩
Journal articles inserm-03791242v1
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RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose

A. Servais , S. Gueguen , D. Georges , B.T. Aurélia , L. Sandrine , 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 , J. Pouchot , S. Ducharme-Bénard , B.J Fautrel , A. Benyamine , et al.
Seminars in Arthritis and Rheumatism, 2020, 50 (1), pp.156--165. ⟨10.1016/j.semarthrit.2019.08.005⟩
Journal articles hal-03894255v1
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Specific changes in faecal microbiota are associated with familial Mediterranean fever

Samuel Deshayes , Soraya Fellahi , Jean-Philippe Bastard , Jean-Marie Launay , Jacques Callebert , et al.
Annals of the Rheumatic Diseases, 2019, 78 (10), pp.1398-1404. ⟨10.1136/annrheumdis-2019-215258⟩
Journal articles 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.
Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Journal articles 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 , Afifaa Butt , Raphaël Borie , Marie-Pierre Debray , Diane Bouvry , et al.
European Respiratory Journal, 2020, 56 (6), pp.2002806. ⟨10.1183/13993003.02806-2020⟩
Journal articles inserm-03794264v1
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MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Valérie Bernard , Bruno Donadille , Tiphaine Le Poulennec , Mariana Nedelcu , Laetitia Martinerie , et al.
European Journal of Endocrinology, 2019, 180 (1), pp.R1-R7. ⟨10.1530/EJE-18-0238⟩
Journal articles 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 , Marie Legendre , Shoshana Rath , Dani Bercovich , et al.
Frontiers in Endocrinology, 2019, 10, pp.381. ⟨10.3389/fendo.2019.00381⟩
Journal articles 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 , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , Andre Coste , et al.
American Journal of Human Genetics, 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
Journal articles hal-02456263v1
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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Alice Lepelley , Maria José Martin-Niclos , Melvin Le Bihan , Joseph A. Marsh , Carolina Uggenti , et al.
Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Journal articles 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 , Nadjib Hammoudi , Marine Livrozet , Aline Santin , Sarah Mattioni , et al.
Scientific Reports, 2021, 11 (1), ⟨10.1038/s41598-021-91161-y⟩
Journal articles 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 , Grégory Jouvion , Dominique Simon-Chazottes , Denis Houzelstein , Odile Burlen-Defranoux , et al.
Scientific Reports, 2020, 10 (1), pp.8734. ⟨10.1038/s41598-020-65683-w⟩
Journal articles pasteur-02868603v1
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Marcella Zollino , Christiane Zweier , Ingrid van Balkom , David Sweetser , Joseph Alaimo , et al.
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩
Journal articles inserm-03798487v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1
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Association of Vasculitis and Familial Mediterranean Fever

Salam Abbara , Gilles Grateau , Stéphanie Ducharme-Bénard , David Saadoun , Sophie Georgin-Lavialle
Frontiers in Immunology, 2019, 10, pp.763. ⟨10.3389/fimmu.2019.00763⟩
Journal articles 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 , et al.
Journal of the American Heart Association, 2020, 9 (2), pp.e014276. ⟨10.1161/JAHA.119.014276⟩
Journal articles 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.
Pharmaceuticals, 2021, 14 (5), pp.421. ⟨10.3390/ph14050421⟩
Journal articles hal-04064240v1
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Gonad differentiation toward ovary

Sophie Lamothe , Valérie Bernard , Sophie Christin-Maitre
Annales d'Endocrinologie, 2020, 81, pp.83 - 88. ⟨10.1016/j.ando.2020.04.004⟩
Journal articles 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.
European Respiratory Journal, 2020, 55 (4), pp.1900725. ⟨10.1183/13993003.00725-2019⟩
Journal articles inserm-03791167v1
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NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Camille Louvrier , Eman Assrawi , Elma El Khouri , Isabelle Melki , Bruno Copin , et al.
Journal of Allergy and Clinical Immunology, 2020, 145 (4), pp.1254-1261. ⟨10.1016/j.jaci.2019.11.035⟩
Journal articles inserm-03782874v1
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Autoinflammatory diseases: State of the art

Sophie Georgin-Lavialle , Antoine Fayand , François Rodrigues , Claude Bachmeyer , Léa Savey , et al.
La Presse Médicale, 2019, 48, pp.e25 - e48. ⟨10.1016/j.lpm.2018.12.003⟩
Journal articles 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.
Advances in Therapy, In press, ⟨10.1007/s12325-021-01961-x⟩
Journal articles hal-03425736v1
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Epidemiology and Infection COVID-19: relationship between atmospheric temperature and daily new cases growth rate

Alexandre Rouen , J. Adda , O. Roy , Eli Rogers , P. Lévy
Epidemiology and Infection, 2020, 148, pp.e184. ⟨10.1017/S0950268820001831⟩
Journal articles 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.
Journal articles hal-03483878v1