Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Charbit-Henrion, Fabienne; Parlato, Marianna; Hanein, Sylvain; Duclaux-Loras, Remi; Nowak, Jan; Begue, Bernadette; Rakotobe, Sabine; Bruneau, Julie; Fourrage, Cecile; Alibeu, Olivier; Rieux-Laucat, Frederic; Levy, Eva; Stolzenberg, Marie-Claude; Mazerolles, Fabienne; Latour, Sylvain; Lenoir, Christelle; Fischer, Alain; Picard, Capucine; Aloi, Marina; Dias, Jorge; Ben Hariz, Mongi; Bourrier, Anne; Breuer, Christian; Breton, Anne; Bronski, Jiri; Buderus, Stephan; Cananzi, Mara; Coopman, Stephanie; Cremilleux, Clara; Dabadie, Alain; Dumant-Forest, Clementine; EĞRİTAŞ GÜRKAN, ÖDÜL; Fabre, Alexandre; Fischer, Aude; German Diaz, Marta; Gonzalez-Lama, Yago; Goulet, Olivier; Guariso, Graziella; Gurcan, Neslihan; Homan, Matjaz; Hugot, Jean-Pierre; Jeziorski, Eric; Karanika, Evi; Lachaux, Alain; Lewindon, Peter; Lima, Rosa; Magro, Fernando; Major, Janos; Malamut, Georgia; Mas, Emmanuel; Mattyus, Istvan; Mearin, Luisa; Melek, Jan; Manuel Navas-Lopez, Victor; Paerregaard, Anders; Pelatan, Cecile; Pigneur, Benedicte; Pais, Isabel; Rebeuh, Julie; Romano, Claudio; Siala, Nadia; Strisciuglio, Caterina; Tempia-Caliera, Michela; Tounian, Patrick; Turner, Dan; Urbonas, Vaidotas; Willot, Stephanie; Ruemmele, Frank; Cerf-Bensussan, Nadine

doi:10.1093/ecco-jcc/jjy068

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Charbit-Henrion F., Parlato M., Hanein S., Duclaux-Loras R., Nowak J., Begue B., ...Daha Fazla

JOURNAL OF CROHNS & COLITIS, cilt.12, sa.9, ss.1104-1112, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 12 Sayı: 9
Basım Tarihi: 2018
Doi Numarası: 10.1093/ecco-jcc/jjy068
Dergi Adı: JOURNAL OF CROHNS & COLITIS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1104-1112
Anahtar Kelimeler: Genetics and molecular epidemiology, paediatrics, VEO-IBD, monogenic disorders, TNGS, X-LINKED INHIBITOR, IMMUNE DYSREGULATION, GERMLINE MUTATIONS, EVOLVING WEB, GENE, ENTEROPATHY, IMMUNODEFICIENCY, DISORDERS, IL10
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Gazi Üniversitesi Adresli: Evet

Özet

Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.