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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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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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RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose

A. Servais , S. Guguen , J. Hogan , A. Bertholet-Thomas , S. Lemoine , et al.
Congrès Société Francophone de Néphrologie, Dialyse et Transplantation (SFNDT), Oct 2022, Rennes (FR), France. pp.313, ⟨10.1016/j.nephro.2022.07.249⟩
Conference papers inserm-04056514v1
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Elma El Khouri , Farah Diab , Camille Louvrier , Eman Assrawi , Aphrodite Daskalopoulou , et al.
eLife, 2023, 12, pp.e81280. ⟨10.7554/eLife.81280⟩
Journal articles inserm-04148971v1
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

Tifenn Desroziers , Grégoire Prévot , Aurore Coulomb , Valérie Nau , Florence Dastot-Le Moal , et al.
European Journal of Human Genetics, 2023, ⟨10.1038/s41431-023-01413-w⟩
Journal articles inserm-04148844v1
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Diagnostic workup of childhood interstitial lung disease

Nadia Nathan , Matthias Griese , Katarzyna Michel , Julia Carlens , Carlee Gilbert , et al.
European Respiratory Review, 2023, 32 (167), pp.220188. ⟨10.1183/16000617.0188-2022⟩
Journal articles inserm-04016668v1
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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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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
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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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Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study

Mihaela Alexandru , Paul de Boissieu , Farida Benoudiba , Malik Moustarhfir , Sookyung Kim , et al.
Journal of Clinical Medicine, 2022, 11 (17), pp.5163. ⟨10.3390/jcm11175163⟩
Journal articles hal-03863866v1
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The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration

Steve Cunningham , Carlee Gilbert , Nico Schwerk
European Respiratory Journal, 2023, 52 (6), pp.1801855. ⟨10.1183/13993003.01855-2018⟩
Journal articles inserm-04041102v1
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Aortic tissue analysis in Turner syndrome

Bruno Donadille , Alexander Valent , Kisaki Amemiya , Nicolas Rive Le Gouard , Laurence Iserin , et al.
Journal of the American College of Cardiology, 2022, 80 (13), pp.1284-1285. ⟨10.1016/j.jacc.2022.07.017⟩
Journal articles hal-03855805v1
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De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

Camille Louvrier , Elma El Khouri , Martine Grall Lerosey , Pierre Quartier , Anne‐marie Guerrot , et al.
Arthritis & rheumatology, 2022, Online ahead of print. ⟨10.1002/art.42354⟩
Journal articles inserm-03836992v1
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Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Alexandre Rouen , Eli Rogers , Veronique Kerlan , Brigitte Delemer , Sophie Catteau-Jonard , et al.
Fertility and Sterility, 2022, 117 (4), pp.843-853. ⟨10.1016/j.fertnstert.2021.12.023⟩
Journal articles hal-03678844v1
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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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Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Spyros Papiris , Caroline Kannengiesser , Raphael Borie , Lykourgos Kolilekas , Maria Kallieri , et al.
Diagnostics, 2022, 12 (12), pp.2928. ⟨10.3390/diagnostics12122928⟩
Journal articles inserm-04015679v1
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Further Characterization of Clinical and Laboratory Features in VEXAS Syndrome: Large-scale Analysis of a Multicentre Case Series of 116 French Patients

S. Georgin-Lavialle , B. Terrier , A.F. Guedon , M. Heiblig , T. Comont , et al.
British Journal of Dermatology, 2022, 186 (3), pp.564-574. ⟨10.1111/bjd.20805⟩
Journal articles hal-03707355v1
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin , Emilie Landais , Céline Poirsier , Alexandra Afenjar , Ahmad Akhavi , et al.
American Journal of Medical Genetics Part A, 2023, 191 (2), pp.445-458. ⟨10.1002/ajmg.a.63041⟩
Journal articles hal-03899297v1
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Impact of Gender on the Characteristics of Patients with Idiopathic Pulmonary Fibrosis Included in the RaDiCo-ILD Cohort

Vincent Cottin , Sonia Gueguen , Stéphane Jouneau , Hilario Nunes , Bruno Crestani , et al.
Respiration, 2022, 101 (1), pp.34-45. ⟨10.1159/000518008⟩
Journal articles hal-03361027v1
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Poor Performance of Albumin or Protein-Adjusted Plasma Calcium to Diagnose Dyscalcemia in Hospitalized Patients: A Confirmatory Study in a General Internal Medicine Department

Marion Alhenc-Gelas , Guillaume Lefevre , Claude Bachmeyer , Pauline M'Bappe , S. Ouahabi , et al.
La Revue de Médecine Interne, 2022, 43 (4), pp.206--211. ⟨10.1016/j.revmed.2021.11.006⟩
Journal articles hal-03888681v1
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Childhood Interstitial Lung Diseases (chILD) Recognition: When Epidemiology Increases a Rare Disease Incidence

Nadia Nathan
Other publications inserm-04099655v1
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RNF213-associated urticarial lesions with hypercytokinemia

Camille Louvrier , Fawaz Awad , Anne Cosnes , Elma El Khouri , Eman Assrawi , et al.
Journal of Allergy and Clinical Immunology, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal articles inserm-03776857v1
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Lucie Tosca , Loïc Drévillon , Aurélie Mouka , Laure Lecerf , Audrey Briand , et al.
Molecular Genetics & Genomic Medicine, In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Journal articles hal-03365908v1
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Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort

Véronique Hentgen , Isabelle Koné-Paut , Alexandre Belot , Caroline Galeotti , Gilles Grateau , et al.
Frontiers in Pharmacology, 2021, 11, pp.568865. ⟨10.3389/fphar.2020.568865⟩
Journal articles hal-03125751v1
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Hormones and fertility

Agnès Linglart , Sophie Christin-Maitre , Dominique Maiter , Philippe Touraine
Annales d'Endocrinologie, 2022, 83 (3), pp.153 - 154. ⟨10.1016/j.ando.2022.05.004⟩
Journal articles inserm-04041544v1
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Heart and Turner syndrome

Bruno Donadille , Sophie Christin-Maitre
Annales d'Endocrinologie, 2021, 82 (3-4), pp.135-140. ⟨10.1016/j.ando.2020.12.004⟩
Journal articles hal-03280276v1
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Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis

Samuel Deshayes , Thibault Fraisse , Soraya Fellahi , Olivier Steichen , Léa Savey , et al.
Scientific Reports, 2022, 12 (1), pp.16644. ⟨10.1038/s41598-022-17358-x⟩
Journal articles inserm-03874714v1
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Editorial: Alveolar Bone: A Pivotal Role in Periodontal Disease Pathobiology and Treatment

Fani Anagnostou , Beatriz Castaneda , Frédéric Lézot , Petros Papagerakis
Other publications inserm-03836707v1
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Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review

Inès Elhani , Anael Dumont , Hélène Vergneault , Samuel Ardois , Maëlle Le Besnerais , et al.
Multiple Sclerosis and Related Disorders, 2021, 50, pp.102834. ⟨10.1016/j.msard.2021.102834⟩
Journal articles inserm-03788436v1
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Role of insulin resistance on fertility - focus on polycystic ovary syndrome

Camille Vatier , Sophie Christin-Maitre , Corinne Vigouroux
Annales d'Endocrinologie, 2022, 83 (3), pp.199-202. ⟨10.1016/j.ando.2022.04.004⟩
Journal articles hal-03647762v1