Table of contents

Original articles

• Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral (13 July, 2005)

  S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, A Thomas
• CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

  (9 September, 2005)

  M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman, A Geurts van Kessel, B B A De Vries, H G Brunner, L H Hoefsloot, C M A van Ravenswaaij
• Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment (23 August, 2005)

  A Del Fattore, B Peruzzi, N Rucci, I Recchia, A Cappariello, M Longo, D Fortunati, P Ballanti, M Iacobini, M Luciani, R Devito, R Pinto, M Caniglia, E Lanino, C Messina, S Cesaro, C Letizia, G Bianchini, H Fryssira, P Grabowski, N Shaw, N Bishop, D Hughes, R P Kapur, H K Datta, A Taranta, R Fornari, S Migliaccio, A Teti
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

  (31 July, 2005)

  A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem
• AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

  (9 September, 2005)

  M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass
• ETHE1 mutations are specific to ethylmalonic encephalopathy

  (23 September, 2005)

  V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu-Libdeh, L Cindro-Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, M Zeviani
• Natural history of Fabry disease in females in the Fabry Outcome Survey (14 October, 2005)

  P B Deegan, A F Baehner, M-Á Barba Romero, D A Hughes, C Kampmann, M Beck
• Prenatal detection of unbalanced chromosomal rearrangements by array CGH (30 September, 2005)

  L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, N P Carter, M Bobrow
• Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH (16 September, 2005)

  D Lugtenberg, A P M de Brouwer, T Kleefstra, A R Oudakker, S G M Frints, C T R M Schrander-Stumpel, J P Fryns, L R Jensen, J Chelly, C Moraine, G Turner, J A Veltman, B C J Hamel, B B A de Vries, H van Bokhoven, H G Yntema