Table of contents

Original articles

• A locus for primary ciliary dyskinesia maps to chromosome 19q (1 April, 2000)

  M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H M Mitchison, R M Gardiner, E Chung
• Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 (1 April, 2000)

  Katrien Janssens, Ruth Gershoni-Baruch, Els Van Hul, Riva Brik, Nuria Guañabens, Nicola Migone, Leon A Verbruggen, Stuart H Ralston, Maryse Bonduelle, Lionel Van Maldergem, Filip Vanhoenacker, Wim Van Hul
• Mutation screening in Rett syndrome patients (1 April, 2000)

  Fengqing Xiang, Silvia Buervenich, Piero Nicolao, Mark E S Bailey, Zhiping Zhang, Maria Anvret
• Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q (1 April, 2000)

  S Pieke-Dahl, C G Möller, P M Kelley, L M Astuto, C W R J Cremers, M B Gorin, W J Kimberling
• Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

  (1 April, 2000)

  Geert R Mortier, MaryAnn Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, Anne De Paepe, Ralph S Lachman, David L Rimoin, David R Eyre, Daniel H Cohn
• Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene (1 April, 2000)

  Karen E Heath, Ian N M Day, Steve E Humphries
• Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications (1 April, 2000)

  Dieter Kotzot, Maria-Jose Martinez, Gulseren Bagci, Seher Basaran, Alessandra Baumer, Franz Binkert, Lucrecja Brecevic, Claudio Castellan, Krystyna Chrzanowska, Fabrizio Dutly, Anna Gutkowska, Sibel Berker Karaüzüm, Malgorzata Krajewska-Walasek, Guven Luleci, Peter Miny, Mariluce Riegel, Simone Schuffenhauer, Heide Seidel, Albert Schinzel
• An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito (1 April, 2000)

  Bert H J Eussen, Gabriella Bartalini, Lida Bakker, Paolo Balestri, Carmela Di Lucca, Jan O Van Hemel, Hans Dauwerse, Ans M W van den Ouweland, Carrie Ris-Stalpers, Senno Verhoef, Dicky J J Halley, Alberto Fois
• Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles (1 April, 2000)

  C M Armour, D E Bulman, A G W Hunter