Table of contents

April 2013 - Volume 50 - 4

Complex traits

  • Original article: Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture
    Joo-Yeon Hwang, Seung Hun Lee, Min Jin Go, Beom-Jun Kim, Ikuyo Kou, Shiro Ikegawa, Yan Guo, Hong-Wen Deng, Soumya Raychaudhuri, Young Jin Kim, Ji Hee Oh, Youngdoe Kim, Sanghoon Moon, Dong-Joon Kim, Heejo Koo, My-Jung Cha, Min Hye Lee, Ji Young Yun, Hye-Sook Yoo, Young-Ah Kang, Eun-Hee Cho, Sang-Wook Kim, Ki Won Oh, Moo Il Kang, Ho Young Son, Shin-Yoon Kim, Ghi Su Kim, Bok-Ghee Han, Yoon Shin Cho, Myeong-Chan Cho, Jong-Young Lee, Jung-Min Koh

Genotype-phenotype correlations

  • Original article: 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
  • Original article: Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
    Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott

New loci

Vision science

Cancer genetics

  • Original article: High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
    Virginie Bubien, Françoise Bonnet, Veronique Brouste, Stéphanie Hoppe, Emmanuelle Barouk-Simonet, Albert David, Patrick Edery, Armand Bottani, Valérie Layet, Olivier Caron, Brigitte Gilbert-Dussardier, Capucine Delnatte, Catherine Dugast, Jean-Pierre Fricker, Dominique Bonneau, Nicolas Sevenet, Michel Longy, Frédéric Caux, French Cowden Disease Network
  • Original article: Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
    Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo, Paola Grammatico, Mark Harland, Nicholas K Hayward, Hui-Han Hu, Thomas Jouary, Tanguy Martin-Denavit, Aija Ozola, Jane M Palmer, Lorenza Pastorino, Dace Pjanova, Nadem Soufir, Solrun J Steine, Alexander J Stratigos, Luc Thomas, Julie Tinat, Hensin Tsao, Rūta Veinalde, Margaret A Tucker, Brigitte Bressac-de Paillerets, Julia A Newton-Bishop, Alisa M Goldstein, Lars A Akslen, Anders Molven

Correction