Endocrinology

  • Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
    Simon Edvardson, Vito Porcelli, Chaim Jalas, Devorah Soiferman, Yuval Kellner, Avraham Shaag, Stanley H Korman, Ciro Leonardo Pierri, Pasquale Scarcia, Nitay D Fraenkel, Reeval Segel, Abraham Schechter, Ayala Frumkin, Ophry Pines, Ann Saada, Luigi Palmieri, Orly Elpeleg
  • 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
  • Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
    Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Sabine Spierts, Edith Coonen, Florence H J van Tienen, Ronald J T van Golde, Irineus F M de Coo, Joep P M Geraedts, Christine E M de Die-Smulders, Hubert J M Smeets
  • 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
  • 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
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel
  • Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
    Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Albert Schinzel, Deborah Bartholdi, Caroline Alby, Sophie Thomas, Nadia Elkhartoufi, Amale Ichkou, Julie Litzler, Arnold Munnich, Férechté Encha-Razavi, Rajesh Kannan, Laurence Faivre, Nathalie Boddaert, Anita Rauch, Michel Vekemans, Tania Attié-Bitach
  • Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
    Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, Eissa Faqeih, Nadia Alhashmi, Noon Mousa, Aisha Alsinani, Shinu Ansari, Fatema Alzahrani, Mohammed Al-Owain, Zayed S Alzayed, Fowzan S Alkuraya
  • Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation
    Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Emi Yamaguchi, Nobuyoshi Tamagawa
  • Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
    Marta Futema, Vincent Plagnol, Ros A Whittall, H Andrew W Neil, Steve Eric Humphries

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