Table of contents

Original articles

• Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) (20 October, 2006)

  Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, Massimo Zeviani
• Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes (13 September, 2006)

  Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner
• Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome (3 October, 2006)

  Aude Servais, Véronique Frémeaux-Bacchi, Moglie Lequintrec, Rémi Salomon, Jacques Blouin, Bertrand Knebelmann, Jean-Pierre Grünfeld, Philippe Lesavre, Laure-Hélène Noël, Fadi Fakhouri
• Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats (11 August, 2006)

  Danuta Z Loesch, Quang M Bui, Richard M Huggins, Robert J Mitchell, Randi J Hagerman, Flora Tassone
• Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population (8 December, 2006)

  Barbara Arredi, Alberto Ferlin, Elena Speltra, Chiara Bedin, Daniela Zuccarello, Francesco Ganz, Eleonora Marchina, Liborio Stuppia, Csilla Krausz, Carlo Foresta
• Variants in mannose-binding lectin and tumour necrosis factor α affect survival in cystic fibrosis (11 December, 2006)

  Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Xinjing Wang, Garry R Cutting