Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Sylvain Hanein"'
Autor:
Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-10 (2019)
Abstract Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To imp
Externí odkaz:
https://doaj.org/article/82edb3badd9e428b9096501733b083a1
Autor:
Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2021)
ObjectiveTo elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).Study designWe studied 19 well-characterized patie
Externí odkaz:
https://doaj.org/article/940eef7e0d604b4bb6f77fa5168db589
Autor:
Frédégonde About, Stéphanie Bibert, Emmanuelle Jouanguy, Bertrand Nalpas, Lazaro Lorenzo, Vimel Rattina, Mohammed Zarhrate, Sylvain Hanein, Mona Munteanu, Beat Müllhaupt, David Semela, Nasser Semmo, Jean-Laurent Casanova, Ioannis Theodorou, Philippe Sultanik, Thierry Poynard, Stanislas Pol, Pierre-Yves Bochud, Aurélie Cobat, Laurent Abel, The Swiss Hepatitis C Cohort Study Group, The French ANRS HC EP 26 Genoscan Study Group, Francesco Negro, Antoine Hadengue, Laurent Kaiser, Laura Rubbia-Brandt, Darius Moradpour, Cristina Cellerai, Martin Rickenbach, Andreas Cerny, Gladys Martinetti, Jean-François Dufour, Meri Gorgievski, Virginie Masserey Spicher, Markus Heim, Hans Hirsch, Beat Helbling, Stephan Regenass, Raffaele Malinverni, Guenter Dollenmaier, Gieri Cathomas
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Despite the astonishing progress in treating chronic hepatitis C virus (HCV) infection with direct-acting antiviral agents, liver fibrosis remains a major health concern in HCV infected patients, in particular due to the treatment cost and insufficie
Externí odkaz:
https://doaj.org/article/6902600e7fc6453da39b73b597e71e52
Autor:
Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205826 (2018)
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiven
Externí odkaz:
https://doaj.org/article/dac08ec7432e47e19ea3c9c69f79f0e3
Autor:
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 1, Iss C (2012)
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G). It create
Externí odkaz:
https://doaj.org/article/4c6ac99f7bf04c2eb9a5d0e5fd83e9c1
Autor:
Simonetta Bandiera, Silvia Rüberg, Muriel Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e20746 (2011)
MicroRNAs (miRNAs) are small non-coding RNAs that associate with Argonaute proteins to regulate gene expression at the post-transcriptional level in the cytoplasm. However, recent studies have reported that some miRNAs localize to and function in oth
Externí odkaz:
https://doaj.org/article/93386519fff74c03863ee24f8f3ffe9b
Autor:
Marco M. Rodari, Dominique Cazals-Hatem, Mathieu Uzzan, Nicolas Martin Silva, Anis Khiat, Minh Chau Ta, Ludovic Lhermitte, Aurore Touzart, Sylvain Hanein, Cléa Rouillon, Francisca Joly, Adrienne Elmorjani, Julie Steffann, Nadine Cerf-Bensussan, Marianna Parlato, Fabienne Charbit-Henrion
Publikováno v:
Journal of Clinical Immunology.
Purpose Hyper activation of the JAK-STAT signaling underlies the pathophysiology of many human immune–mediated diseases. Herein, the study of 2 adult patients with SOCS1 haploinsufficiency illustrates the severe and pleomorphic consequences of its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f180880fe358fa04289e1c7e9332ebce
https://doi.org/10.1007/s10875-023-01495-7
https://doi.org/10.1007/s10875-023-01495-7
Autor:
Jean-Pierre Malen, Moise Assouline, Caroline Demily, Gilles Roland-Manuel, Claude Besmond, Lisa Frugère, Emeline Throo, Laurence Hubert, Mélanie Ferreri, Sylvain Hanein, Valérie Malan, Nathalie Boddaert, Céline Vidal, Charlyne Duwime, Giulia Barcia, Arnold Munnich
Publikováno v:
médecine/sciences. 35:843-851
Malgré les avancées de la recherche, un grand nombre de patients atteints de troubles du spectre autistique (TSA) n’ont pas accès aux explorations aujourd’hui disponibles, du fait d’idées reçues, de l’insuffisance des structures à
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33686ec008f068c744b73e3ee67fb8c
https://doi.org/10.1051/medsci/2019170
https://doi.org/10.1051/medsci/2019170
Autor:
Caroline Demily, Emeline Throo, Mélanie Ferreri, Laurence Hubert, Nathalie Boddaert, Lisa Frugère, Sylvain Hanein, Valérie Malan, Arnold Munnich, Jean-Christophe Thalabard, Jean-Pierre Malen, Claude Besmond, Charlyne Duwime, Céline Vidal, Gilles Roland-Manuel, Moise Assouline, Giulia Barcia
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-10 (2019)
Molecular Autism
Molecular Autism
Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To improve acce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e348a07b85cf1900983fdc7e79f13b26
http://link.springer.com/article/10.1186/s13229-019-0284-2
http://link.springer.com/article/10.1186/s13229-019-0284-2
Autor:
Helder Fernandes, Guy Leverger, Vincent Barlogis, Yves Bertrand, Mohammed Zarhrate, Corinne Pondarré, E. Dore, Nathalie Cheikh, Elodie Colomb Bottollier, Caroline Thomas, Eric Jeziorski, Frédéric Rieux-Laucat, Fabienne Mazerolles, Y Perel, Capucine Picard, Pascale Blouin, Cécile Fourrage, Nicolas Garcelon, Aude Magerus-Chatinet, Marlène Pasquet, Sylvain Hanein, Benedicte Neven, Dominique Plantaz, Nathalie Aladjidi, Fanny Fouyssac, Thierry Leblanc, Jérémie Rosain, Alain Fischer, Marie-Claude Stolzenberg, Stéphane Ducassou, Sidonie Jacques, Frédéric Millot, Jérôme Hadjadj, Wadih Abou Chahla, Isabelle Pellier
Publikováno v:
Blood
Blood, American Society of Hematology, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Blood, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Blood, American Society of Hematology, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141.⟩
Blood, American Society of Hematology, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Blood, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Blood, American Society of Hematology, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141.⟩
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most cases, the underlying cause is unknown. We sought to identify genetic defects in pediatric E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c414386ca8faf8f2241ed62a296c623
https://doi.org/10.1182/blood-2018-11-887141
https://doi.org/10.1182/blood-2018-11-887141