ProfileOfResearchers

TITLE: Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease Full Text
AUTHORS: Bader Meunier, Brigitte; Martins, Andreia Luis; Charbit Henrion, Fabienne; Meinzer, Ulrich; Belot, Alexandre; Cuisset, Laurence; Faye, Albert; Georgin Lavialle, Sophie; Quartier, Pierre; Remy Piccolo, Vanessa; Ruemmele, Frank; Uettwiller, Florence; Viala, Jerome; Bensussan, Nadine Cerf; Berrebi, Dominique; Melki, Isabelle;
PUBLISHED: 2021, SOURCE: INFLAMMATORY BOWEL DISEASES, VOLUME: 27, ISSUE: 11

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WOS

TITLE: Inherited p40(phox) deficiency differs from classic chronic granulomatous disease
AUTHORS: Annemarie van de Geer; Alejandro Nieto Patlan; Douglas B Kuhns; Anton T J Tool; Andres A Arias; Matthieu Bouaziz; Martin de Boer; Jose L Luis Franco; Roel P Gazendam; John L van Hamme; Michel van Houdt; Karin van Leeuwen; Paul J H Verkuijlen; Timo K van den Berg; Juan F Alzate; Carlos A Arango Franco; Vritika Batura; Andrea R Bernasconi; Barbara Boardman; Claire Booth; Siobhan O Burns; Felipe Cabarcas; Nadine Cerf Bensussan; Fabienne Charbit Henrion; Anniek Corveleyn; Caroline Deswarte; Maria E Esnaola Azcoiti; Dirk Foell; John I Gallin; Carlos Garces; Margarida Guedes; Claas H Hinze; Steven M Holland; Stephen M Hughes; Patricio Ibanez; Harry L Malech; Isabelle Meyts; Marcela Moncada Velez; Kunihiko Moriya; Esmeralda Neves; Matias Oleastro; Laura Perez; Vimel Rattina; Carmen Oleaga Quintas; Neil Warner; Aleixo M Muise; Jeanet S Serafin Lopez; Eunice Trindade; Julia Vasconcelos; Severine Vermeire; Helmut Wittkowski; Austen Worth; Laurent Abel; Mary C Dinauer; Peter D Arkwright; Dirk Roos; Jean Laurent Casanova; Taco W Kuijpers; Jacinta Bustamante; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 128, ISSUE: 9

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TITLE: Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study Full Text
AUTHORS: Fabienne Charbit Henrion; Marianna Parlato; Sylvain Hanein; Remi Duclaux Loras; Jan Nowak; Bernadette Begue; Sabine Rakotobe; Julie Bruneau; Cecile Fourrage; Olivier Alibeu; Frederic Rieux Laucat; Eva Levy; Marie Claude Stolzenberg; Fabienne Mazerolles; Sylvain Latour; Christelle Lenoir; Alain Fischer; Capucine Picard; Marina Aloi; Jorge Amil Dias; Mongi Ben Hariz; Anne Bourrier; Christian Breuer; Anne Breton; Jiri Bronski; Stephan Buderus; Mara Cananzi; Stephanie Coopman; Clara Cremilleux; Alain Dabadie; Clementine Dumant Forest; Odul Egritas Gurkan; Alexandre Fabre; Aude Fischer; Marta G German Diaz; Yago Gonzalez Lama; Olivier Goulet; Graziella Guariso; Neslihan Gurcan; Matjaz Homan; Jean Pierre Hugot; Eric Jeziorski; Evi Karanika; Alain Lachaux; Peter Lewindon; Rosa Lima; Fernando Magro ; Janos Major; Georgia Malamut; Emmanuel Mas; Istvan Mattyus; Luisa M Mearin; Jan Melek; Victor M Manuel Navas Lopez; Anders Paerregaard; Cecile Pelatan; Benedicte Pigneur; Isabel Pinto Pais; Julie Rebeuh; Claudio Romano; Nadia Siala; Caterina Strisciuglio; Michela Tempia Caliera; Patrick Tounian; Dan Turner; Vaidotas Urbonas; Stephanie Willot; Frank M Ruemmele; Nadine Cerf Bensussan; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CROHNS & COLITIS, VOLUME: 12, ISSUE: 9

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WOS

TITLE: Copy number variations and founder effect underlying complete IL-10R beta deficiency in Portuguese kindreds Full Text
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; Nadine Cerf Bensussan; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10

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Scopus

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