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Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

L. Heinz , E. Bourrat , P. Vabres , J. Thevenon , A. Hotz et al.
British Journal of Dermatology, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
Article dans une revue hal-01859710v1

Linearity and Efficiency Characterization of AlGaN/GaN and InAlGaN/GaN HEMTs devices using Multi-tone Large Signal Measurements

V. Gillet , M. Bouslama , S. Piotrowicz , C. Potier , O. Patard et al.
2019 49th European Microwave Conference (EuMC), Oct 2019, Paris, France. pp.567-570, ⟨10.23919/EuMC.2019.8910734⟩
Communication dans un congrès hal-02460432v1

Malnutrition in type 2 diabetic patients does not affect healing of foot ulcers

C. Fourmont , A. Rouland , A. L. Sberna , L. S. Aho Glele , T. Mouillot et al.
Acta Diabetologica, 2019, 56 (2), pp.171-176. ⟨10.1007/s00592-018-1233-9⟩
Article dans une revue hal-01902005v1

More than 50% of non-healing at one year in “infarct like” acute myocarditis evaluated by Cardiac Magnetic Resonance

T. Pommier , C. Guenancia , S. Tisserand , T. Leclercq , A. Alaa El Din et al.
Archives of Cardiovascular Diseases Supplements, 2019, 11 (2), pp.274. ⟨10.1016/j.acvdsp.2019.02.195⟩
Article dans une revue hal-02140958v1

Adjuvant chemotherapy versus perioperative chemotherapy (CTx) for resectable gastric signet ring cell (SRC) gastric cancer: A multicenter, randomized phase II study (PRODIGE 19).

Clarisse Eveno , Antoine Adenis , Olivier Bouche , Karine Le Malicot , Vincent Hautefeuille et al.
Journal of Clinical Oncology, 2019, 37 (15, S), ⟨10.1200/JCO.2019.37.15\_suppl.4019⟩
Article dans une revue hal-03597236v1

Traumatic atlanto-axial rotatory subluxation after surgical correction of prominent ears: Case report and review of the literature

Y. Macheboeuf , V. Moris , S. Cristofari , P. Rizzi , L.-A See et al.
Journal of Stomatology, Oral and Maxillofacial Surgery, In press, ⟨10.1016/j.jormas.2018.10.016⟩
Article dans une revue hal-01957141v1

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker , Kim Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal Oden et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue hal-02000984v1

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange-Line Bruel , Sophie Nambot , Virginie Quéré , Antonio Vitobello , Julien Thevenon et al.
European Journal of Human Genetics, 2019, 27 (10), pp.1519-1531. ⟨10.1038/s41431-019-0442-1⟩
Article dans une revue hal-02626363v1

The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death

Jonathan Vial , Amélie Royet , Philippe Cassier , Antonin Tortereau , Sarah Dinvaut et al.
Cell Death and Differentiation, 2019, 26, pp.443-454. ⟨10.1038/s41418-018-0128-1⟩
Article dans une revue hal-01960268v1

Prognostic factors in patients treated with second-line chemotherapy for advanced gastric cancer: results from the randomized prospective phase III FFCD-0307 trial

Y. Touchefeu , R. Guimbaud , C. Louvet , L. Dahan , E. Samalin et al.
Gastric Cancer, In press, pp.1-10. ⟨10.1007/s10120-018-0885-z⟩
Article dans une revue hal-01986753v1

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti et al.
Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩
Article dans une revue hal-02461440v1

Inactivation of Proprotein Convertases in T Cells Inhibits PD-1 Expression and Creates a Favorable Immune Microenvironment in Colorectal Cancer

Mercedes Tomé , Angela Pappalardo , Fabienne Soulet , José Javier López , Jone Olaizola et al.
Cancer Research, 2019, 79 (19), pp.5008-5021. ⟨10.1158/0008-5472.CAN-19-0086⟩
Article dans une revue hal-02407117v1

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Deepika d'Cunha Burkardt , Anna Zachariou , Chey Loveday , Clare Allen , David Amor et al.
American Journal of Medical Genetics Part A, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
Article dans une revue hal-02393762v1

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

L. Faivre , Clothilde Esteve , L. Francescatto , P. L. Tan , A. Bourchany et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Article dans une revue hal-02461437v1

Chapter 7. Food Processing

Isabelle Séverin , Hervé Lonque
Gases in Agro-Food Processes, Academic Press, pp.680, In press, 9780128124659
Chapitre d'ouvrage hal-01984636v1

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Article dans une revue hal-02063270v1

Cell-Cycle Asynchrony Generates DNA Damage at Mitotic Entry in Polyploid Cells

Maddalena Nano , Simon Gemble , Anthony Simon , Carole Pennetier , Vincent Fraisier et al.
Current Biology - CB, 2019, 29 (22), pp.3937-3945.e7. ⟨10.1016/j.cub.2019.09.041⟩
Article dans une revue hal-02400431v1

Rituximab is an effective treatment in patients with pemphigus vulgaris and demonstrates a steroid‐sparing effect

D.M. Chen , A. Odueyungbo , E. Csinady , L. Gearhart , P. Lehane et al.
British Journal of Dermatology, 2019, ⟨10.1111/bjd.18482⟩
Article dans une revue hal-02416188v1

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Pierre Vabres , Arthur Sorlin , Stanislav S. Kholmanskikh , Bénédicte Demeer , Judith St Onge et al.
Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Article dans une revue hal-02622254v1

Etudes des échanges de molécules entre le bois et son contenu

Florence Fricoteaux , Pascal Poupault , Eric Notz , Mark Irle , Marie-Christine Chagnon et al.
Bois et industries agroalimentaires, 2019, 978-2-7430-2489-5
Chapitre d'ouvrage hal-03111219v1

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill Rosenfeld , Katrin Männik et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0266-3⟩
Article dans une revue hal-02059381v1

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Elodie Fiot , Delphine Zenaty , Priscilla Boizeau , Jérémie Haignere , Sophie dos Santos et al.
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
Article dans une revue hal-02863454v1

Disentangling the effect of host genetics and gut microbiota on resistance to an intestinal parasite

Bruno Faivre , Jérome Bellenger , Aurélie Rieu , Emmanuel Guivier , Maxime Galan et al.
International Journal for Parasitology, 2019, 49 (11), pp.873-883. ⟨10.1016/j.ijpara.2019.06.001⟩
Article dans une revue hal-02310946v1

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Hélène Coignard-Biehler , Nizar Mahlaoui , Benoît Pilmis , Vincent Barlogis , Pauline Brosselin et al.
Journal of Clinical Immunology, 2019, 39 (7), pp.702-712. ⟨10.1007/s10875-019-00658-9⟩
Article dans une revue hal-02377907v1

Remote ischemic conditioning in septic shock (RECO-Sepsis): study protocol for a randomized controlled trial

M. Cour , M. Buisson , K. Klouche , R. Bouzgarrou , C. Schwebel et al.
Trials, 2019, 20 (1), pp.281. ⟨10.1186/s13063-019-3406-4⟩
Article dans une revue hal-02195282v1

Safety and Efficacy of Nivolumab in Brain Metastases From Renal Cell Carcinoma: Results of the GETUG-AFU 26 NIVOREN Multicenter Phase II Study

Ronan Flippot , Cécile Dalban , Brigitte Laguerre , Delphine Borchiellini , Gwénaelle Gravis et al.
Journal of Clinical Oncology, 2019, 37 (23), pp.2008--2016. ⟨10.1200/JCO.18.02218⟩
Article dans une revue hal-02931819v1

Trends in incidence of small bowel cancer according to histology: a population-based study

Anne-Marie Bouvier , Michel Robaszkiewicz , Valerie Jooste , Mélanie Cariou , Antoine Drouillard et al.
Journal of Gastroenterology, 2019, Epub ahead of print. ⟨10.1007/s00535-019-01636-z⟩
Article dans une revue inserm-02381671v1

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy

Georges Tarris , Gaël Belliot , Patrick Callier , Frédéric Huet , Laurent Martin et al.
Pediatric Infectious Disease Journal, 2019, 38 (12), pp.e326-e328. ⟨10.1097/INF.0000000000002472⟩
Article dans une revue hal-02380000v1

Extubation of patients undergoing extracorporeal life support. A retrospective study

Omar Ellouze , Julie Lamirel , Justine Perrot , Anis Missaoui , Theresa Daily et al.
Perfusion, 2019, 34 (1), pp.50-57. ⟨10.1177/0267659118791072⟩
Article dans une revue hal-01882051v1

Beta 3 adrenoceptor signalling pathway inhibites inflammasome activity in macrophages

H. Zhang , T. Lopez , Fabrice Neiers , E. Bouysse , Maeva Wendremaire et al.
17. International Congress of Immunology (IUIS 2019), Oct 2019, Beijin, China. 2 p., ⟨10.1002/eji.201970400⟩
Communication dans un congrès hal-02423300v1