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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Quentin Thomas , Antonio Vitobello , Frederic Tran Mau-Them , Yannis Duffourd , Agnès Fromont et al.
Journal of Medical Genetics, 2021, pp.2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
Article dans une revue hal-03266264v1

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

Pierre-Henri Roux-Levy , Damien Sanlaville , Benedicte de Freminville , Renaud Touraine , Alice Masurel et al.
European Journal of Medical Genetics, 2021, 64 (10), ⟨10.1016/j.ejmg.2021.104290⟩
Article dans une revue hal-03403503v1

Impact of High-Dose Prophylactic Anticoagulation in Critically Ill Patients With COVID-19 Pneumonia

Charles Tacquard , Alexandre Mansour , Alexandre Godon , Julien Godet , Julien Poissy et al.
Chest, 2021, 159 (6), pp.2417-2427. ⟨10.1016/j.chest.2021.01.017⟩
Article dans une revue hal-03285114v1

Hematological malignancies in giant cell arteritis: a french population-based study

Hélène Greigert , Morgane Mounier , Louis Arnould , Catherine Creuzot-Garcher , André Ramon et al.
Rheumatology, 2021, 60 (11), pp.5408-5412. ⟨10.1093/rheumatology/keab328⟩
Article dans une revue hal-03225197v1

Actualisation des références nutritionnelles françaises en vitamines et minéraux

François Mariotti , Frederick Barreau , Charlotte Beaudart , Catherine Bennetau-Pelissero , Clara Benzi-Schmid et al.
[0] Saisine n° 2018-SA-0238, ANSES. 2021, 239 p
Rapport anses-03791986v1

Orosensory Perception of Fat/Sweet Stimuli and Appetite-Regulating Peptides before and after Sleeve Gastrectomy or Gastric Bypass in Adult Women with Obesity

Arnaud Bernard , Johanne Le Beyec-Le Bihan , Loredana Radoï , Muriel Coupaye , Ouidad Sami et al.
Nutrients, 2021, Special Issue: The Effect of Bariatric Surgery on Food and Taste Preferences Contributing to Weight Loss, 13 (3), pp.878. ⟨10.3390/nu13030878⟩
Article dans une revue hal-03764505v1

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

A. Sorlin , V. Carmignac , J. Amiel , O. Boccara , S. Fraitag et al.
Journal of the European Academy of Dermatology and Venereology, 2021, ⟨10.1111/jdv.17413⟩
Article dans une revue hal-03342804v1

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J.M. Dingemans , Nicolas Guex et al.
American Journal of Human Genetics, 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩
Article dans une revue hal-03268683v1

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

Mathilde Filser , Muriel Giansily-Blaizot , Mélanie Grenier , David Monedero Alonso , Guillaume Bouyer et al.
Blood, 2021, 137 (13), pp.1828-1832. ⟨10.1182/blood.2020008424⟩
Article dans une revue hal-03654406v1

CYCLON and NPM1 Cooperate within an Oncogenic Network Predictive of R-CHOP Response in DLBCL

Antonin Bouroumeau , Lucile Bussot , Sieme Hamaidia , Andrea Garcia-Sandoval , Anna Bergan-Dahl et al.
Cancers, 2021, 13 (23), pp.5900. ⟨10.3390/cancers13235900⟩
Article dans une revue hal-03605382v1

The Influence of Underlying Disease on Rituximab Pharmacokinetics May be Explained by Target-Mediated Drug Disposition

Amina Bensalem , Guillaume Cartron , Ulrich Specks , Denis Mulleman , Emmanuel Gyan et al.
Clinical Pharmacokinetics, 2021, ⟨10.1007/s40262-021-01081-3⟩
Article dans une revue hal-03482193v1

Sirolimus (rapamycine) pour le traitement des malformations vasculaires de bas débit chez l’enfant : essai randomisé multicentrique ouverte avec une phase observationnelle préalable (PERFORMUS)

Annabel Maruani , Elsa Tavernier , Olivia Boccara , Juliette Mazereuw-Hautier , Sophie Leducq et al.
Annales de Dermatologie et de Vénéréologie - FMC, 2021, 1 (8), pp.A88. ⟨10.1016/j.fander.2021.09.492⟩
Article dans une revue hal-03853706v1

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

Kévin Uguen , Kilannin Krysiak , Séverine Audebert-Bellanger , Sylvia Redon , Caroline Benech et al.
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Article dans une revue hal-03282329v1

Nanofitins targeting heat shock protein 110: an innovative immunotherapeutic modality in cancer.

Guillaume Marcion , François Hermetet , F. Neiers , Burhan Uyanik , Lucile Dondaine et al.
International Journal of Cancer, 2021, 148 (12), pp.3019-3031. ⟨10.1002/ijc.33485⟩
Article dans une revue hal-03144438v1

Development of a new methodology to determine size differences of nanoparticles with nanoparticle tracking analysis

Yann Pellequer , Gilbert Zanetta , Jean-Michel Rebibou , Isabelle Séverin , Marie-Christine Chagnon et al.
Applied Nanoscience, 2021, 11, pp.2129-2141. ⟨10.1007/s13204-021-01932-2⟩
Article dans une revue hal-03281325v1

Douleur et Souffrance : représentations croisées des Oncologues et des Patients, une étude qualitative

Edith Salès-Wuillemin , Catherine Lejeune , Anthony Clain , Thomas Carrel
Psycho-Oncologie, A paraître
Article dans une revue hal-03115398v1

Do in vitro fertilization, intrauterine insemination or female infertility impact the risk of congenital anomalies in singletons? A longitudinal national French study

Patricia Fauque , Jacques de Mouzon , Aviva Devaux , Sylvie Epelboin , Marie-José Gervoise-Boyer et al.
Human Reproduction, 2021, 36 (3), pp.808-816. ⟨10.1093/humrep/deaa323⟩
Article dans une revue hal-04020677v1

Cross Kingdom Immunity: The Role of Immune Receptors and Downstream Signaling in Animal and Plant Cell Death

Thibault Roudaire , Marie-Claire Héloir , David Wendehenne , Aymeric Zadoroznyj , Laurence Dubrez et al.
Frontiers in Immunology, 2021, 11, ⟨10.3389/fimmu.2020.612452⟩
Article dans une revue hal-03313103v1

Five-Year Survival Outcomes of Hybrid Minimally Invasive Esophagectomy in Esophageal Cancer

Frederiek Nuytens , Tienhan Sandrine Dabakuyo-Yonli , Bernard Meunier , Johan Gagnière , Denis Collet et al.
JAMA Surgery, 2021, 156 (4), pp.323. ⟨10.1001/jamasurg.2020.7081⟩
Article dans une revue hal-03626687v1

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

M. Lefebvre , A. L. Bruel , E. Tisserant , N. Bourgon , Y. Duffourd et al.
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Article dans une revue inserm-03231676v1

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Jonathan Lévy , Bérénice Schell , Hala Nasser , Myriam Rachid , Lyse Ruaud et al.
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Article dans une revue hal-03700568v1

Guidelines on enhanced recovery after pulmonary lobectomy

Pascal Berna , Christophe Quesnel , Jalal Assouad , Patrick Bagan , Harry Etienne et al.
Anaesthesia Critical Care & Pain Medicine, 2021, 40 (1), ⟨10.1016/j.accpm.2020.100791⟩
Article dans une revue hal-03319833v1

Increased Phospholipid Transfer Protein Activity Is Associated With Markers of Enhanced Lipopolysaccharide Clearance in Human During Cardiopulmonary Bypass

Maxime Nguyen , Thomas Gautier , Guillaume Reocreux , Gaëtan Pallot , Guillaume Maquart et al.
Frontiers in Cardiovascular Medicine, 2021, 8, pp.1-8. ⟨10.3389/fcvm.2021.756269⟩
Article dans une revue hal-03381893v1

The case of methotrexate and the lung: Dr Jekyll and Mr Hyde

Vincent Cottin , Elisabeth Bendstrup , Philippe Bonniaud , Mouhamad Nasser , Paolo Spagnolo et al.
European Respiratory Journal, 2021, 57 (2), pp.2100079. ⟨10.1183/13993003.00079-2021⟩
Article dans une revue hal-03480993v1

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

M. Luu , P. Vabres , H. Devilliers , R. Loffroy , A. Phan et al.
Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01290-y⟩
Article dans une revue hal-03342786v1

BeEAM (bendamustine, etoposide, cytarabine, melphalan) prior to autologous stem cell transplant for chemosensitive relapses in patients with follicular lymphoma: a prospective multicentre phase II study in Lymphoma Study Association centres

Hervé Ghesquières , Cécile Dalban , Emmanuelle Nicolas‐virelizier , Fabrice Jardin , Fabien Le Bras et al.
British Journal of Haematology, 2021, 192 (3), pp.e94-e98. ⟨10.1111/bjh.17279⟩
Article dans une revue inserm-03349131v1

Impact of the polycarbonate strippers used in assisted reproduction techniques on embryonic development

J. Moreau , N. Gatimel , Yannick Lippi , G. Tavenier , P. Fauque et al.
Human Reproduction, 2021, 36 (2), pp.331-339. ⟨10.1093/humrep/deaa290⟩
Article dans une revue hal-03036601v1

Management of diabetes mellitus in patients with cirrhosis: An overview and joint statement

Etienne Boursier , Rodolphe Anty , Claire Carette , Bertrand Cariou , Laurent Castera et al.
Diabetes & Metabolism, 2021, 47 (5), pp.101272. ⟨10.1016/j.diabet.2021.101272⟩
Article dans une revue hal-03336710v1

Central venous-to-arterial CO2 difference is a poor tool to predict adverse outcomes after cardiac surgery: a retrospective study

Pierre Huette , Christophe Beyls , Jihad Mallat , Lucie Martineau , Patricia Besserve et al.
Canadian Journal of Anesthesia / Journal canadien d'anesthésie, 2021, 68 (4), pp.467-476. ⟨10.1007/s12630-020-01881-4⟩
Article dans une revue hal-03574724v1

Original Article Changes in Plasma Angiopoietin Levels After Transcatheter Aortic Valve Replacement and Surgical Aortic Valve Replacement: A Prospective Cohort Study

Osama Abou-Arab , Saïd Kamel , Stephane Bar , Christophe Beyls , Pierre Huette et al.
Journal of Cardiothoracic and Vascular Anesthesia, 2021, 35 (11), pp.3215-3222. ⟨10.1053/j.jvca.2021.03.025⟩
Article dans une revue hal-03565098v1