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Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

Caroline Kannengiesser , Borie Raphael , Christelle Ménard , Marion Réocreux , Patrick Nitschké et al.
European Respiratory Journal, 2015, 46 (2), pp.474-485. ⟨10.1183/13993003.00710-2015⟩
Article dans une revue hal-01214563v1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Elodie Bal , Hyun-Sook Park , Zakia Belaid-Choucair , Hulya Kayserili , Magali Naville et al.
Nature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Article dans une revue hal-02415844v1
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Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients

Florence Aeschlimann , Nassim Ait-Abdallah , Jean-David Albert , Didier Alcais , Yannick Allanore et al.
Annals of the Rheumatic Diseases, 2020, pp.annrheumdis-2020-218310. ⟨10.1136/annrheumdis-2020-218310⟩
Article dans une revue hal-03105409v1
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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

Carine El Sissy , Jeremie Rosain , Paula Vieira-Martins , Pauline Bordereau , Aurelia Gruber et al.
Frontiers in Immunology, 2019, 10, pp.1939. ⟨10.3389/Fimmu.2019.01936⟩
Article dans une revue pasteur-02423490v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron , Timothy J. Edwards , Angélique Quartier , Charles Galea et al.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Article dans une revue hal-01502133v1
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BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease

Abderrahim Oussalah , Patrice Hodonou Avogbe , Erwan Guyot , Céline Chery , Rosa-Maria Guéant et al.
Oncotarget, 2016, 8 (38), pp.62842-62857. ⟨10.18632/oncotarget.11327⟩
Article dans une revue hal-01494359v1

Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study

Arsène Mekinian , Eric Grignano , Thorsten Braun , Olivier Decaux , Eric Liozon et al.
Rheumatology, 2016, 55 (2), pp.291--300. ⟨10.1093/rheumatology/kev294⟩
Article dans une revue hal-01299293v1

Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia

Margaux Gadion , Agathe Hervé , Julia Herrou , Anya Rothenbuhler , Violaine Smail-Faugeron et al.
JBMR Plus, 2022, ⟨10.1002/jbm4.10672⟩
Article dans une revue hal-03820272v1
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B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells.

Matthieu Mahévas , Pauline Patin , François Huetz , Marc Descatoire , Nicolas Cagnard et al.
Journal of Clinical Investigation, 2013, 123 (1), pp.432-42. ⟨10.1172/JCI65689⟩
Article dans une revue pasteur-00778075v1
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Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

Ai Ing Li , Yan Li , Silvia Lopez-Lastra , Ralph Stadhouders , Franziska Paul et al.
Cell, 2017, 168 (6), pp.1086-1100.e10. ⟨10.1016/j.cell.2017.02.021⟩
Article dans une revue pasteur-01501939v1
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Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population.

Nathanael Lapidus , Xavier de Lamballerie , Nicolas Salez , Michel Setbon , Rosemary M Delabre et al.
PLoS ONE, 2012, 8 (4), pp.e60127. ⟨10.1371/journal.pone.0060127⟩
Article dans une revue hal-01122215v1

Cryptosporidium spp. Infection in Solid Organ Transplantation

Fanny Lanternier , Karima Amazzough , Loïc Favennec , Marie-France Mamzer-Bruneel , Hendy Abdoul et al.
Transplantation, 2017, 101 (4), pp.826 - 830. ⟨10.1097/TP.0000000000001503⟩
Article dans une revue hal-01698267v1

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Mathieu P Rodero , Isabelle Melki , Yoann Rose , Carolina Uggenti , Lien van Eyck et al.
Journal of Allergy and Clinical Immunology, 2017, 140 (2), pp.543-552.e5. ⟨10.1016/J.JACI.2016.10.031⟩
Article dans une revue hal-02996541v1
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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1 H NMR spectroscopy and genetic testing

Nadia Bouchemal , Lisa Ouss , Anaïs Brassier , Valérie Barbier , Stéphanie Gobin et al.
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1174-6⟩
Article dans une revue hal-02409445v1

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

Laure Delhon , Clementine Mahaut , Nicolas Goudin , Emilie Gaudas , Kevin Piquand et al.
FASEB Journal, 2019, 33 (2), pp.2707-2718. ⟨10.1096/fj.201800753RR⟩
Article dans une revue hal-02137091v1

Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study

Laetitia Houx , Eric Hachulla , Isabelle Kone-Paut , Pierre Quartier , Isabelle Touitou et al.
Arthritis & rheumatology, 2015, 67 (11), pp.3027-3036. ⟨10.1002/art.39292⟩
Article dans une revue hal-01261619v1
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“Real life” use of raltegravir during pregnancy in France: The Coferal-IMEA048 cohort study

Pierre Gantner , Babacar Sylla , Laurence Morand-Joubert , Pierre Frange , Karine Lacombe et al.
PLoS ONE, 2019, 14 (4), pp.e0216010. ⟨10.1371/journal.pone.0216010⟩
Article dans une revue hal-02120969v1

Antifungal de-escalation was not associated with adverse outcome in critically ill patients treated for invasive candidiasis: post hoc analyses of the AmarCAND2 study data

Sébastien Bailly , Olivier Leroy , Philippe Montravers , Jean-Michel Constantin , Hervé Dupont et al.
Intensive Care Medicine, 2015, 41 (11), pp.1931-40. ⟨10.1007/s00134-015-4053-1⟩
Article dans une revue hal-01205360v1
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Enhanced Renewal of Erythroid Progenitors in Myelodysplastic Anemia by Peripheral Serotonin

David Sibon , Tereza Coman , Julien Rossignol , Mathilde Lamarque , Olivier Kosmider et al.
Cell Reports, 2019, 26 (12), pp.3246-3256.e4. ⟨10.1016/j.celrep.2019.02.071⟩
Article dans une revue hal-02086600v1
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Early blood transcriptomic signature predicts patients’ outcome after out-of-hospital cardiac arrest

Renaud Tissier , Hakim Hocini , Nicolas Tchitchek , Nicolas Deye , Stéphane Legriel et al.
Resuscitation, 2019, 138, pp.222 - 232. ⟨10.1016/j.resuscitation.2019.03.006⟩
Article dans une revue hal-03485659v1

Gastrointestinal manifestations in mastocytosis: A study of 83 patients.

Harry Sokol , Sophie Georgin-Lavialle , Danielle Canioni , Stéphane Barete , Gandhi Damaj et al.
Journal of Allergy and Clinical Immunology, 2013, 132 (4), pp.866-873.e3. ⟨10.1016/j.jaci.2013.05.026⟩
Article dans une revue hal-00849794v1

Association Between FIASMAs and Reduced Risk of Intubation or Death in Individuals Hospitalized for Severe COVID‐19: An Observational Multicenter Study

Nicolas Hoertel , Marina Sánchez-Rico , Erich Gulbins , Johannes Kornhuber , Alexander Carpinteiro et al.
Clinical Pharmacology and Therapeutics, 2021, 110 (6), pp.1498-1511. ⟨10.1002/cpt.2317⟩
Article dans une revue hal-03967465v1
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Seizures in dominantly inherited Alzheimer disease

Aline Zarea , Camille Charbonnier , Anne Rovelet-Lecrux , Gaël Nicolas , Stéphane Rousseau et al.
Neurology, 2016, 87 ((9)), pp.912-9. ⟨10.1212/WNL.0000000000003048⟩
Article dans une revue inserm-01371485v1

Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study.

Amélie Trinquand , Aline Tanguy-Schmidt , Raouf Ben Abdelali , Jérôme Lambert , Kheira Beldjord et al.
Journal of Clinical Oncology, 2013, 31 (34), pp.4333-42. ⟨10.1200/JCO.2012.48.5292⟩
Article dans une revue hal-00979452v1

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquérriere , Jérome Maluenda , Adrien Camus , Laura Fontenas , Klaus Dieterich et al.
Human Molecular Genetics, 2014, 23 (9), pp.2279--2289. ⟨10.1093/hmg/ddt618⟩
Article dans une revue hal-01064295v1

Antifungal therapy for patients with proven or suspected Candida peritonitis: Amarcand2, a prospective cohort study in French intensive care units

P. Montravers , P.F. Perrigault , J.F. Timsit , J.P. Mira , O. Lortholary et al.
Clinical Microbiology and Infection, 2017, 23 (2), pp.117.e1 - 117.e8. ⟨10.1016/j.cmi.2016.10.001⟩
Article dans une revue hal-01808143v1

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

E. Ranza , C. Huber , N. Levin , G. Baujat , C. Bole-Feysot et al.
Clinical Genetics, 2017, 91 (6), pp.868 - 880. ⟨10.1111/cge.12885⟩
Article dans une revue hal-01541071v1

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau et al.
European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩
Article dans une revue hal-01431285v1

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

Aurélie Caye , Marion Strullu , Fabien Guidez , Bruno Cassinat , Steven Gazal et al.
Nature Genetics, 2015, 47 (11), pp.1334 - 1340. ⟨10.1038/ng.3420⟩
Article dans une revue hal-01938513v1

Plasma apolipoprotein H limits HCV replication and associates with response to NS3 protease inhibitors-based therapy

Philippe Sultanik , Vincent Mallet , Sylvie Lagaye , Armanda Casrouge , Céline Dorival et al.
Liver International, 2015, 35 (7), pp.1833 - 1844. ⟨10.1111/liv.12759⟩
Article dans une revue istex pasteur-01380846v1