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Gastroenterology

  • Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3
    Ahmed Al-Qahtani, Hanif G Khalak, Fowzan S Alkuraya, Waleed Al-hamoudy, Khalid Alswat, Mohammed A Al Balwi, Ibrahim Al AbdulKareem, Faisal M Sanai, Ayman A Abdo
    Journal of Medical Genetics Nov 2013, 50 (11) 725-732; DOI: 10.1136/jmedgenet-2013-101724
  • Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
    D Trujillano, M D Ramos, J González, C Tornador, F Sotillo, G Escaramis, S Ossowski, L Armengol, T Casals, X Estivill
    Journal of Medical Genetics Jul 2013, 50 (7) 455-462; DOI: 10.1136/jmedgenet-2013-101602
  • CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
    Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Guy Lalau, Elodie Gautier, Jacques Rollet, Jean Flori, Raphaëlle Nové-Josserand, Jean-Claude Soufir, Alain Haloun, Dominique Hubert, Elise Houssin, Gil Bellis, Gilles Rault, Albert David, Laurent Janny, Raphaël Chiron, Nathalie Rives, Dominique Hairion, Patrick Collignon, Antoine Valeri, Gilles Karsenty, Annick Rossi, Marie-Pierre Audrézet, Claude Férec, Julie Leclerc, Marie des Georges, Mireille Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, David Cheillan, Delphine Feldmann, Christine Clavel, Eric Bieth, Albert Iron, Brigitte Simon-Bouy, Vincent Izard, Julie Steffann, Stéphane Viville, Catherine Costa, Véronique Drouineaud, Patricia Fauque, Christine Binquet, Claire Bonithon-Kopp, Mike A Morris, Laurence Faivre, Michel Goossens, Michel Roussey, Emmanuelle Girodon, the collaborating working group on p.Arg117His
    Journal of Medical Genetics Apr 2013, 50 (4) 220-227; DOI: 10.1136/jmedgenet-2012-101427
  • Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk
    Christina M Lill, Brit-Maren M Schjeide, Christiane Graetz, Tian Liu, Vincent Damotte, Denis A Akkad, Paul Blaschke, Lisa-Ann Gerdes, Antje Kroner, Felix Luessi, Isabelle Cournu-Rebeix, Sabine Hoffjan, Alexander Winkelmann, Emmanuel Touze, Fernando Pico, Philippe Corcia, David Otaegui, Alfredo Antigüedad, Antonio Alcina, Manuel Comabella, Xavier Montalban, Javier Olascoaga, Fuencisla Matesanz, Thomas Dörner, Shu-Chen Li, Elisabeth Steinhagen-Thiessen, Ulman Lindenberger, Andrew Chan, Peter Rieckmann, Hans-Peter Hartung, Orhan Aktas, Peter Lohse, Mathias Buttmann, Tania Kümpfel, Christian Kubisch, Uwe K Zettl, Joerg T Epplen, Bertrand Fontaine, Frauke Zipp, Koen Vandenbroeck, Lars Bertram
    Journal of Medical Genetics Mar 2013, 50 (3) 140-143; DOI: 10.1136/jmedgenet-2012-101411
  • Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
    Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne-Lise Delezoide, Anne Dieux-Coeslier, Brigitte Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, Muriel Le Bourgeois, Jelena Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Munnich, Martine Le Merrer, Kim Hanh Le Quan Sang, Valérie Cormier-Daire
    Journal of Medical Genetics Feb 2013, 50 (2) 91-98; DOI: 10.1136/jmedgenet-2012-101282
  • Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
    Antonio Alcina, Maria Fedetz, Óscar Fernández, Albert Saiz, Guillermo Izquierdo, Miguel Lucas, Laura Leyva, Juan-Antonio García-León, María del Mar Abad-Grau, Iraide Alloza, Alfredo Antigüedad, María J Garcia-Barcina, Koen Vandenbroeck, Jezabel Varadé, Belén de la Hera, Rafael Arroyo, Manuel Comabella, Xavier Montalban, Natalia Petit-Marty, Arcadi Navarro, David Otaegui, Javier Olascoaga, Yolanda Blanco, Elena Urcelay, Fuencisla Matesanz
    Journal of Medical Genetics Jan 2013, 50 (1) 25-33; DOI: 10.1136/jmedgenet-2012-101085
  • Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance
    Susanne E Korsse, Femme Harinck, Margot G F van Lier, Katharina Biermann, G Johan A Offerhaus, Nanda Krak, Caspar W N Looman, Wendy van Veelen, Ernst J Kuipers, Anja Wagner, Evelien Dekker, Elisabeth M H Mathus-Vliegen, Paul Fockens, Monique E van Leerdam, Marco J Bruno
    Journal of Medical Genetics Jan 2013, 50 (1) 59-64; DOI: 10.1136/jmedgenet-2012-101277
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel
    Journal of Medical Genetics Dec 2012, 49 (12) 737-746; DOI: 10.1136/jmedgenet-2012-101173
  • Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation
    Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Emi Yamaguchi, Nobuyoshi Tamagawa
    Journal of Medical Genetics Oct 2012, 49 (10) 642-643; DOI: 10.1136/jmedgenet-2012-101161
  • De novo copy number variants are associated with congenital diaphragmatic hernia
    Lan Yu, Julia Wynn, Lijiang Ma, Saurav Guha, George B Mychaliska, Timothy M Crombleholme, Kenneth S Azarow, Foong Yen Lim, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Charles A LeDuc, Katherine Costa, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, Wendy K Chung
    Journal of Medical Genetics Oct 2012, 49 (10) 650-659; DOI: 10.1136/jmedgenet-2012-101135

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