Endocrinology

  • Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes
    Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Hannah Jagoe, Hannah Lake, Gabrielle A Lockett, Hasan Arshad, David I Wilson, John W Holloway, I Karen Temple, Deborah J G Mackay
  • A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
    Mamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, Firdous Mohammed, Fowzan S Alkuraya
  • 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
  • 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
  • A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
    L van der Tol, B E Smid, B J H M Poorthuis, M Biegstraaten, R H Lekanne Deprez, G E Linthorst, C E M Hollak
  • 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
    Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep Tümer, Bart Loeys, Stanislas Lyonnet, Laurence Faivre
  • Genome-wide association study of sex hormones, gonadotropins and sex hormone–binding protein in Chinese men
    Zhuo Chen, Sha Tao, Yong Gao, Ju Zhang, Yanling Hu, Linjian Mo, Seong-Tae Kim, Xiaobo Yang, Aihua Tan, Haiying Zhang, Xue Qin, Li Li, Yongming Wu, Shijun Zhang, S Lilly Zheng, Jianfeng Xu, Zengnan Mo, Jielin Sun
  • CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
    F Brioude, I Oliver-Petit, A Blaise, F Praz, S Rossignol, M Le Jule, N Thibaud, A-M Faussat, M Tauber, Y Le Bouc, I Netchine
  • Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
    Jingmei Li, Jia Nee Foo, Nils Schoof, Jajini S Varghese, Pablo Fernandez-Navarro, Gretchen L Gierach, Swee Tian Quek, Mikael Hartman, Silje Nord, Vessela N Kristensen, Marina Pollán, Jonine D Figueroa, Deborah J Thompson, Yi Li, Chiea Chuen Khor, Keith Humphreys, Jianjun Liu, Kamila Czene, Per Hall
  • Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
    Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger

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