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Gastroenterology

  • NOTCH2 mutations in Alagille syndrome
    Binita Maya Kamath, Robert C Bauer, Kathleen M Loomes, Grace Chao, Jennifer Gerfen, Anne Hutchinson, Winita Hardikar, Gideon Hirschfield, Paloma Jara, Ian D Krantz, Pablo Lapunzina, Laura Leonard, Simon Ling, Vicky Lee Ng, Phuc Le Hoang, David A Piccoli, Nancy Bettina Spinner
    Journal of Medical Genetics Feb 2012, 49 (2) 138-144; DOI: 10.1136/jmedgenet-2011-100544
  • A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
    P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, V Cormier-Daire
    Journal of Medical Genetics Jan 2001, 38 (1) 14-19; DOI: 10.1136/jmg.38.1.14
  • 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
  • Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens
    Estelle Lopez, Victoria Viart, Caroline Guittard, Carine Templin, Céline René, Déborah Méchin, Marie Des Georges, Mireille Claustres, Marie-Catherine Romey-Chatelain, Magali Taulan
    Journal of Medical Genetics Mar 2011, 48 (3) 152-159; DOI: 10.1136/jmg.2010.081851
  • CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
    Paola Ghiorzo, Giuseppe Fornarini, Stefania Sciallero, Linda Battistuzzi, Fiorenza Belli, Loris Bernard, Luigina Bonelli, Giacomo Borgonovo, William Bruno, Franco De Cian, Andrea DeCensi, Marco Filauro, Francesca Faravelli, Alberto Gozza, Sara Gargiulo, Frederique Mariette, Sabina Nasti, Lorenza Pastorino, Paola Queirolo, Vincenzo Savarino, Liliana Varesco, Giovanna Bianchi Scarrà, the Genoa Pancreatic Cancer Study Group
    Journal of Medical Genetics Mar 2012, 49 (3) 164-170; DOI: 10.1136/jmedgenet-2011-100281
  • Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma
    Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa, Bin Tean Teh
    Journal of Medical Genetics Mar 2001, 38 (3) 165-170; DOI: 10.1136/jmg.38.3.165
  • 20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
    S R Lalani, J V Thakuria, G F Cox, X Wang, W Bi, M S Bray, C Shaw, S W Cheung, A C Chinault, B A Boggs, Z Ou, E K Brundage, J R Lupski, J Gentile, S Waisbren, A Pursley, L Ma, M Khajavi, G Zapata, R Friedman, J J Kim, J A Towbin, P Stankiewicz, S Schnittger, I Hansmann, T Ai, S Sood, X H Wehrens, J F Martin, J W Belmont, L Potocki
    Journal of Medical Genetics Mar 2009, 46 (3) 168-175; DOI: 10.1136/jmg.2008.061002
  • Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
    Bridget A Fernandez, Wendy Roberts, Brian Chung, Rosanna Weksberg, Stephen Meyn, Peter Szatmari, Ann M Joseph-George, Sara MacKay, Kathy Whitten, Barbara Noble, Cathy Vardy, Victoria Crosbie, Sandra Luscombe, Eva Tucker, Lesley Turner, Christian R Marshall, Stephen W Scherer
    Journal of Medical Genetics Mar 2010, 47 (3) 195-203; DOI: 10.1136/jmg.2009.069369
  • Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia
    Lan Yu, James T Bennett, Julia Wynn, Gemma L Carvill, Yee Him Cheung, Yufeng Shen, George B Mychaliska, Kenneth S Azarow, Timothy M Crombleholme, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Foong-Yen Lim, John Pietsch, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, University of Washington Center for Mendelian Genomics, Heather Mefford, Wendy K Chung
    Journal of Medical Genetics Mar 2014, 51 (3) 197-202; DOI: 10.1136/jmedgenet-2013-101989
  • Cancer risk in 348 French MSH2 or MLH1 gene carriers
    Y Parc, C Boisson, G Thomas, S Olschwang
    Journal of Medical Genetics Mar 2003, 40 (3) 208-213; DOI: 10.1136/jmg.40.3.208

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