Table of contents

Original articles

• BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

  (30 January, 2008)

  J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan
• Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

  (19 February, 2008)

  K D Hadfield, W G Newman, N L Bowers, A Wallace, C Bolger, A Colley, E McCann, D Trump, T Prescott, D G R Evans
• A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

  (4 January, 2008)

  M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, M Nilbert, J Green, J Potter, A Lindblom, A de la Chapelle
• Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis (4 January, 2008)

  B W M van Bon, D A Koolen, R Borgatti, A Magee, S Garcia-Minaur, L Rooms, W Reardon, M Zollino, M C Bonaglia, M De Gregori, F Novara, R Grasso, R Ciccone, H A van Duyvenvoorde, A M Aalbers, R Guerrini, E Fazzi, W M Nillesen, S McCullough, S G Kant, C L Marcelis, R Pfundt, N de Leeuw, D Smeets, E A Sistermans, J M Wit, B C Hamel, H G Brunner, F Kooy, O Zuffardi, B B A de Vries
• High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

  (19 February, 2008)

  D Mei, R Lewis, E Parrini, L P Lazarou, C Marini, D T Pilz, R Guerrini
• Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

  (19 February, 2008)

  G Kristjansdottir, J K Sandling, A Bonetti, I M Roos, L Milani, C Wang, S M Gustafsdottir, S Sigurdsson, A Lundmark, P J Tienari, K Koivisto, I Elovaara, T Pirttilä, M Reunanen, L Peltonen, J Saarela, J Hillert, T Olsson, U Landegren, A Alcina, O Fernández, L Leyva, M Guerrero, M Lucas, G Izquierdo, F Matesanz, A-C Syvänen
• A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome (4 January, 2008)

  E Klopocki, C-E Ott, N Benatar, R Ullmann, S Mundlos, K Lehmann