Table of contents

Original articles

• International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia (23 June, 2009)

  M E Faughnan, V A Palda, G Garcia-Tsao, U W Geisthoff, J McDonald, D D Proctor, J Spears, D H Brown, E Buscarini, M S Chesnutt, V Cottin, A Ganguly, J R Gossage, A E Guttmacher, R H Hyland, S J Kennedy, J Korzenik, J J Mager, A P Ozanne, J F Piccirillo, D Picus, H Plauchu, M E M Porteous, R E Pyeritz, D A Ross, C Sabba, K Swanson, P Terry, M C Wallace, C J J Westermann, R I White, L H Young, R Zarrabeitia
• Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

  (30 July, 2009)

  Denise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, Geneviève Baujat, Felicity Collins, Anne-Lise Delezoide, Nathalie Dagoneau, Martine Le Merrer, Jelena Martinovic, Marcos Fernando S Mello, Michel Vekemans, Arnold Munnich, Valerie Cormier-Daire
• Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

  (7 October, 2010)

  I Christiaans, S B Kenter, H C Brink, T A M van Os, F Baas, P van den Munckhof, A M J Kidd, T J M Hulsebos
• 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype (10 November, 2010)

  Boyan Dimitrov, Irina Balikova, Thomy de Ravel, Hilde Van Esch, Maryse De Smedt, Emiel Baten, Joris Robert Vermeesch, Irena Bradinova, Emil Simeonov, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy (10 November, 2010)

  Edgar A Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J Allen, Weibin Zhou, Rannar Airik, Toby W Hurd, Amiya K Ghosh, Matthias T Wolf, Bernd Hoppe, Thomas J Neuhaus, Detlef Bockenhauer, David V Milford, Neveen A Soliman, Corinne Antignac, Sophie Saunier, Colin A Johnson, Friedhelm Hildebrandt, the GPN Study Group
• Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

  (30 October, 2010)

  Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Benno Röthlisberger, Peter Weber, Andreas R Huber, Tsutomu Nishizawa, Alexandre N Datta, Peter Miny, Toshiyuki Yamamoto
• GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms (30 October, 2010)

  Ian M Carr, Nick Camm, Graham R Taylor, Ruth Charlton, Sian Ellard, Eamonn G Sheridan, Alexander F Markham, David T Bonthron