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Calcium and Bone

  • Germline RET variants underlie a subset of paediatric osteosarcoma
    Michal Kovac, Connor Woolley, Sebastian Ribi, Claudia Blattmann, Eva Roth, Marco Morini, Monika Kovacova, Baptiste Ameline, Andreas Kulozik, Stefan Bielack, Wolfgang Hartmann, Mandy L Ballinger, David M Thomas, Ian Tomlinson, Michaela Nathrath, Karl Heinimann, Daniel Baumhoer
    Journal of Medical Genetics Jan 2021, 58 (1) 20-24; DOI: 10.1136/jmedgenet-2019-106734
  • FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
    Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire
    Journal of Medical Genetics Apr 2018, 55 (4) 278-284; DOI: 10.1136/jmedgenet-2017-104999
  • The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
    Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley
    Journal of Medical Genetics Mar 2014, 51 (3) 165-169; DOI: 10.1136/jmedgenet-2013-102066
  • A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
    Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, Bert H Eussen, Annelies de Klein, Marjolein J Peters, Bjarni Halldorsson, Ching-Ti Liu, Nerea Alonso, Stephen K Kaptoge, Gudmar Thorleifsson, Göran Hallmans, Lynne J Hocking, Lise Bjerre Husted, Karen A Jameson, Marcin Kruk, Joshua R Lewis, Millan S Patel, Serena Scollen, Olle Svensson, Stella Trompet, Natasja M van Schoor, Kun Zhu, Brendan M Buckley, Cyrus Cooper, Ian Ford, David Goltzman, Jesús González-Macías, Bente Lomholt Langdahl, William D Leslie, Paul Lips, Roman S Lorenc, José M Olmos, Ulrika Pettersson-Kymmer, David M Reid, José A Riancho, P Eline Slagboom, Carmen Garcia-Ibarbia, Thorvaldur Ingvarsson, Hrefna Johannsdottir, Robert Luben, Carolina Medina-Gómez, Pascal Arp, Kannabiran Nandakumar, Stefan Th Palsson, Gunnar Sigurdsson, Joyce B J van Meurs, Yanhua Zhou, Albert Hofman, J Wouter Jukema, Huibert A P Pols, Richard L Prince, L Adrienne Cupples, Christian R Marshall, Dalila Pinto, Daisuke Sato, Stephen W Scherer, Jonathan Reeve, Unnur Thorsteinsdottir, David Karasik, J Brent Richards, Kari Stefansson, André G Uitterlinden, Stuart H Ralston, John P A Ioannidis, Douglas P Kiel, Fernando Rivadeneira, Karol Estrada
    Journal of Medical Genetics Feb 2014, 51 (2) 122-131; DOI: 10.1136/jmedgenet-2013-102064
  • Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
    Frank Rauch, Pierre Moffatt, Moira Cheung, Peter Roughley, Liljana Lalic, Allan M Lund, Norman Ramirez, Somayyeh Fahiminiya, Jacek Majewski, Francis H Glorieux
    Journal of Medical Genetics Jan 2013, 50 (1) 21-24; DOI: 10.1136/jmedgenet-2012-101307