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Gastroenterology

  • Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
    Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
    Journal of Medical Genetics Apr 2017, 54 (4) 241-247; DOI: 10.1136/jmedgenet-2016-104289
  • COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
    Silvia Galbiati, Alessandra Monguzzi, Francesco Damin, Nadia Soriani, Marianna Passiu, Carlo Castellani, Federica Natacci, Cristina Curcio, Manuela Seia, Faustina Lalatta, Marcella Chiari, Maurizio Ferrari, Laura Cremonesi
    Journal of Medical Genetics Jul 2016, 53 (7) 481-487; DOI: 10.1136/jmedgenet-2015-103229
  • Identification of quantitative trait loci for murine autoimmune pancreatitis
    Farahnaz Asghari, Brit Fitzner, Stephanie-Anna Holzhüter, Horst Nizze, Andreia de Castro Marques, Susen Müller, Steffen Möller, Saleh M Ibrahim, Robert Jaster
    Journal of Medical Genetics Aug 2011, 48 (8) 557-562; DOI: 10.1136/jmg.2011.089730
  • CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
    M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman, A Geurts van Kessel, B B A De Vries, H G Brunner, L H Hoefsloot, C M A van Ravenswaaij
    Journal of Medical Genetics Apr 2006, 43 (4) 306-314; DOI: 10.1136/jmg.2005.036061
  • 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
  • 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
  • Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
    Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato
    Journal of Medical Genetics Apr 2017, 54 (4) 224-235; DOI: 10.1136/jmedgenet-2016-103985
  • ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
    C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, C Vaury, V Verkarre, J-B Arnoux, V Valayannopoulos, S Gobrecht, C Sempoux, J Rahier, J-C Fournet, F Jaubert, Y Aigrain, C Nihoul-Fékété, P de Lonlay
    Journal of Medical Genetics Nov 2010, 47 (11) 752-759; DOI: 10.1136/jmg.2009.075416
  • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
    M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass
    Journal of Medical Genetics Apr 2006, 43 (4) 334-339; DOI: 10.1136/jmg.2005.036608
  • Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels
    Amélie Bonnefond, Amel Lamri, Audrey Leloire, Emmanuel Vaillant, Ronan Roussel, Claire Lévy-Marchal, Jacques Weill, Pilar Galan, Serge Hercberg, Stéphanie Ragot, Samy Hadjadj, Guillaume Charpentier, Beverley Balkau, Michel Marre, Frédéric Fumeron, Philippe Froguel
    Journal of Medical Genetics Sep 2015, 52 (9) 595-598; DOI: 10.1136/jmedgenet-2015-103065

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