Table of contents

Original articles

• Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients (23 October, 2010)

  Laura K Conlin, Whitney Kramer, Anne L Hutchinson, Xia Li, Harold Riethman, Hakon Hakonarson, John C Mulley, Ingrid E Scheffer, Samuel F Berkovic, Syed A Hosain, Nancy B Spinner
• Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population (23 October, 2010)

  Mi-Hyun Park, NamHee Kim, Jong-Young Lee, Hyun-Young Park
• A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency (23 October, 2010)

  A S Lebre, M Rio, L Faivre d'Arcier, D Vernerey, P Landrieu, A Slama, C Jardel, P Laforêt, D Rodriguez, N Dorison, D Galanaud, B Chabrol, V Paquis-Flucklinger, D Grévent, S Edvardson, J Steffann, B Funalot, N Villeneuve, V Valayannopoulos, P de Lonlay, I Desguerre, F Brunelle, J P Bonnefont, A Rötig, A Munnich, N Boddaert
• Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia (12 September, 2010)

  Frauke Stanke, Tim Becker, Vinod Kumar, Silke Hedtfeld, Christian Becker, Harry Cuppens, Stephanie Tamm, Jennifer Yarden, Ulrike Laabs, Benny Siebert, Luis Fernandez, Milan Macek, Dragica Radojkovic, Manfred Ballmann, Joachim Greipel, Jean-Jacques Cassiman, Thomas F Wienker, Burkhard Tümmler
• CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

  (30 October, 2010)

  Tatsuya Furuichi, Jin Dai, Tae-Joon Cho, Satoru Sakazume, Masahide Ikema, Yoshito Matsui, Gareth Baynam, Toshiro Nagai, Noriko Miyake, Naomichi Matsumoto, Hirofumi Ohashi, Sheila Unger, Andrea Superti-Furga, Ok-Hwa Kim, Gen Nishimura, Shiro Ikegawa
• CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection (26 October, 2010)

  Arne S Schaefer, Gesa M Richter, Henrik Dommisch, Markus Reinartz, Michael Nothnagel, Barbara Noack, Marja L Laine, Mathias Folwaczny, Birte Groessner-Schreiber, Bruno G Loos, Søren Jepsen, Stefan Schreiber
• Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

  (23 October, 2010)

  Alistair T Pagnamenta, Hameed Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, Maria Clara Bonaglia, Roberto Giorda, Tom Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S Sutcliffe, Peter Szatmari, Andrew D Paterson, Stephen W Scherer, Veronica J Vieland, Anthony P Monaco
• Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

  (23 October, 2010)

  Stéphanie Maupetit-Méhouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, Francois Feillet, Jean-Claude Carel, Dominique Simon, Hélène Bihan, Vincent Gajdos, Eve Devouge, Savitha Shenoy, Placide Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart