Table of contents

Original articles

• Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

  (18 June, 2009)

  M Gerards, W Sluiter, B J C van den Bosch, L E A de Wit, C M H Calis, M Frentzen, H Akbari, K Schoonderwoerd, H R Scholte, R J Jongbloed, A T M Hendrickx, I F M de Coo, H J M Smeets
• Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

  (2 December, 2009)

  Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner, Ute Hehr, Sherri Bale, Aimee Paulussen, Hubert J Smeets, Emily Hardisty, Anna Tylki-Szymanska, Ewa Pronicka, Michelle Clemens, Elizabeth McPherson, Raoul C M Hennekam, Jin Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Chayim Can Schell-Apacik, Carol W Booth, Ronald L Thomas, Sue Kenwrick, Derek A T Cummings, Sophia M Bous, Amelia Keaton, Joan Z Balog, Donald Hadley, Nan Zhou, Robert Long, Jorge I Vélez, Daniel E Pineda-Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke
• Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1 (7 June, 2010)

  Douglas R Stewart, Jennifer L Sloan, Lawrence Yao, Andrew J Mannes, Armin Moshyedi, Chyi-Chia Richard Lee, Raf Sciot, Luc De Smet, Victor-Felix Mautner, Eric Legius
• Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

  (27 May, 2010)

  M J Nevet, S A Shalev, J Zlotogora, N Mazzawi, T Ben-Yosef
• Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly (24 June, 2010)

  Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera
• Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

  (23 July, 2010)

  Salima El Chehadeh, Bernard Aral, Nadège Gigot, Christel Thauvin-Robinet, Anne Donzel, Marie-Ange Delrue, Didier Lacombe, Albert David, Lydie Burglen, Nicole Philip, Anne Moncla, Valérie Cormier-Daire, Marlène Rio, Patrick Edery, Alain Verloes, Dominique Bonneau, Alexandra Afenjar, Aurélia Jacquette, Delphine Heron, Pierre Sarda, Lucile Pinson, Bérénice Doray, Jacqueline Vigneron, Bruno Leheup, Anne-Marie Frances-Guidet, Gwenaelle Dienne, Muriel Holder, Alice Masurel-Paulet, Frédéric Huet, Jean-Raymond Teyssier, Laurence Faivre
• SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

  (24 June, 2010)

  Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, Paul Gordon, Bernard Bricka, Agnès Camuzat, Léna Guillot-Noël, Odile Russaouen, Gaëlle Bruneteau, Pierre-François Pradat, Nadine Le Forestier, Nadia Vandenberghe, Véronique Danel-Brunaud, Nathalie Guy, Christel Thauvin-Robinet, Lucette Lacomblez, Philippe Couratier, Didier Hannequin, Danielle Seilhean, Isabelle Le Ber, Philippe Corcia, William Camu, Alexis Brice, Guy Rouleau, Eric LeGuern, Vincent Meininger
• BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries

  (14 May, 2010)

  D Gareth Evans, Munaza Ahmed, Stuart Bayliss, Emma Howard, Fiona Lalloo, Andrew Wallace