1
TITLE: Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations
AUTHORS: Aldrian, D; Vogel, GF; Frey, TK; Civan, HA; Aksu, AU; Avitzur, Y; Boluda, ER; Cakir, M; Demir, AM; Deppisch, C; Duba, HC; Duker, G; Gerner, P; Hertecant, J; Hornova, J; Kathemann, S; Koeglmeier, J; Koutroumpa, A; Lanzersdorfer, R; Lev Tzion, R; Lima, R; Mansour, S; Meissl, M; Melek, J; Miqdady, M; Montoya, JH; Posovszky, C; Rachman, Y; Siahanidou, T; Tabbers, M; Uhlig, HH; Unal, S; Wirth, S; Ruemmele, FM; Hess, MW; Huber, LA; Muller, T; Sturm, E; Janecke, AR; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 10, ISSUE: 3
INDEXED IN: WOS
2
TITLE: Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
AUTHORS: Charbit Henrion, F; Parlato, M; Hanein, S; Duclaux Loras, R; Nowak, J; Begue, B; Rakotobe, S; Bruneau, J; Fourrage, C; Alibeu, O; Rieux Laucat, F; Lévy, E; Stolzenberg, MC; Mazerolles, F; Latour, S; Lenoir, C; Fischer, A; Picard, C; Aloi, M; Dias, JA; Hariz, MB; Bourrier, A; Breuer, C; Breton, A; Bronsky, J; Buderus, S; Cananzi, M; Coopman, S; Crémilleux, C; Dabadie, A; Dumant Forest, C; Gurkan, OE; Fabre, A; Fischer, A; Diaz, MG; Gonzalez Lama, Y; Goulet, O; Guariso, G; Gurcan, N; Homan, M; Hugot, JP; Jeziorski, E; Karanika, E; Lachaux, A; Lewindon, P; Lima, R; Magro, F; Major, J; Malamut, G; Mas, E; Mattyus, I; Mearin, LM; Melek, J; Navas Lopez, VM; Paerregaard, A; Pelatan, C; Pigneur, B; Pais, IP; Rebeuh, J; Romano, C; Siala, N; Strisciuglio, C; Tempia Caliera, M; Tounian, P; Turner, D; Urbonas, V; Willot, S; Ruemmele, FM; Cerf Bensussan, N; ...More
PUBLISHED: 2021, SOURCE: Journal of Crohn's & colitis, VOLUME: 15, ISSUE: 3
INDEXED IN: Scopus
3
TITLE: Mevalonate Kinase Deficiency: A Cause of Severe Very- Early-Onset Inflammatory Bowel Disease  Full Text
AUTHORS: Bader Meunier, B; Martins, AL; Charbit Henrion, F; Meinzer, U; Belot, A; Cuisset, L; Faye, A; Georgin Lavialle, S; Quartier, P; Remy Piccolo, V; Ruemmele, F; Uettwiller, F; Viala, J; Bensussan, NC; Berrebi, D; Melki, I;
PUBLISHED: 2021, SOURCE: INFLAMMATORY BOWEL DISEASES, VOLUME: 27, ISSUE: 11
INDEXED IN: Scopus WOS
4
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
INDEXED IN: WOS
5
TITLE: Corona Virus Disease 2019 and Paediatric Inflammatory Bowel Diseases: Global Experience and Provisional Guidance (March 2020) from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition
AUTHORS: Dan Turner; Ying Huang; Javier Martin de Carpi; Marina Aloi; Gili Focht; Ben Kang; Ying Zhou; Cesar Sanchez; Michael D Kappelman; Holm H Uhlig; Gemma Pujol Muncunill; Oren Ledder; Paolo Lionetti; Jorge Amil Dias; Frank M Ruemmele; Richard K Russell;
PUBLISHED: 2020, SOURCE: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, VOLUME: 70, ISSUE: 6
INDEXED IN: WOS
6
TITLE: Malignancy and mortality in paediatric-onset inflammatory bowel disease: a 3-year prospective, multinational study from the paediatric IBD Porto group of ESPGHAN  Full Text
AUTHORS: Joosse, ME; Aardoom, MA; Kemos, P; Turner, D; Wilson, DC; Koletzko, S; Martin de Carpi, J; Fagerberg, UL; Spray, C; Tzivinikos, C; Sladek, M; Shaoul, R; Roma Giannikou, E; Bronsky, J; Serban, DE; Ruemmele, FM; Garnier Lengline, H; Veres, G; Hojsak, I; Kolho, KL; Davies, IH; Aloi, M; Lionetti, P; Hussey, S; Veereman, G; Braegger, CP; Trindade, E; Wewer, AV; Hauer, AC; de Vries, ACH; Sigall S Boneh; Sarbagili S Shabat; Levine, A; de Ridder, L; ...More
PUBLISHED: 2018, SOURCE: ALIMENTARY PHARMACOLOGY & THERAPEUTICS, VOLUME: 48, ISSUE: 5
INDEXED IN: Scopus WOS
7
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
INDEXED IN: Scopus WOS
8
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
INDEXED IN: Scopus WOS
9
TITLE: Outcome measures for clinical trials in paediatric IBD: an evidence-based, expert-driven practical statement paper of the paediatric ECCO committee
AUTHORS: Frank M Ruemmele; Jeffrey S Hyams; Anthony Otley; Anne Griffiths; Kaija Leena Kolho; Jorge Amil Dias; Arie Levine; Johanna C Escher; Jan Taminiau; Gabor Veres; Jean Frederic Colombel; Severine Vermeire; David C Wilson; Dan Turner;
PUBLISHED: 2015, SOURCE: GUT, VOLUME: 64, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
10
TITLE: ESPGHAN Position Paper on Management of Percutaneous Endoscopic Gastrostomy in Children and Adolescents
AUTHORS: Heuschkel, RB; Gottrand, F; Devarajan, K; Poole, H; Callan, J; Dias, JA; Karkelis, S; Papadopoulou, A; Husby, S; Ruemmele, F; Schaeppi, MG; Wilschanski, M; Lionetti, P; Orel, R; Tovar, J; Thapar, N; Vandenplas, Y;
PUBLISHED: 2015, SOURCE: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, VOLUME: 60, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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