Table of contents

Original articles

• POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

  (13 May, 2005)

  J van Reeuwijk, M Janssen, C van den Elzen, D Beltran-Valero de Bernabé, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M A Huynen, A Verrips, C A Walsh, P G Barth, H G Brunner, H van Bokhoven
• Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype (6 May, 2005)

  U Moog, M C Jones, L M Bird, W B Dobyns
• Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification (13 May, 2005)

  C L Harteveld, A Voskamp, M Phylipsen, N Akkermans, J T den Dunnen, S J White, P C Giordano
• A male-specific quantitative trait locus on 1p21 controlling human stature (12 April, 2005)

  S Sammalisto, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M-R Taskinen, T Tuomi, P Almgren, M Orho-Melander, L Groop, L Peltonen, M Perola
• Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10 (14 April, 2005)

  E Rampersaud, A G Bassuk, D S Enterline, T M George, D G Siegel, E C Melvin, J Aben, J Allen, A Aylsworth, T Brei, J Bodurtha, C Buran, L E Floyd, P Hammock, B Iskandar, J Ito, J A Kessler, N Lasarsky, P Mack, J Mackey, D McLone, E Meeropol, L Mehltretter, L E Mitchell, W J Oakes, J S Nye, C Powell, K Sawin, R Stevenson, M Walker, S G West, G Worley, J R Gilbert, M C Speer