Table of contents

Letters to the editor

• Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

  (1 September, 2001)

  Annette M Payne, Alex G Morris, Susan M Downes, Samantha Johnson, Alan C Bird, Anthony T Moore, Shomi S Bhattacharya, David M Hunt
• A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

  (1 September, 2001)

  C Anthony Rupar, Douglas Matsell, Susan Surry, Victoria Siu
• De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes (1 September, 2001)

  Holger Tönnies, Ilka Schulze, Hans-Christian Hennies, Luitgard Margarete Neumann, Rolf Keitzer, Heidemarie Neitzel
• Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay (1 September, 2001)

  M Syrrou, J-P Fryns
• Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

  (1 September, 2001)

  Madhuri R Hegde, Belinda Chong, Matthew Fawkner, Nikolas Lambiris, Hartmut Peters, Aileen Kenneson, Stephen T Warren, Donald R Love, Julie McGaughran
• Non-invasive evaluation of arterial involvement in patients affected with Fabry disease (1 September, 2001)

  Pierre Boutouyrie, Stéphane Laurent, Brigitte Laloux, Olivier Lidove, Jean-Pierre Grunfeld, Dominique P Germain
• Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs (1 September, 2001)

  Catherine Mura, Gérald Le Gac, Virginie Scotet, Odile Raguenes, Anne-Yvonne Mercier, Claude Férec
• Haptoglobin genotype as a risk factor for postmenopausal osteoporosis (1 September, 2001)

  Gian Piero Pescarmona, Patrizia D'Amelio, Emanuella Morra, Gian Carlo Isaia
• GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

  (1 September, 2001)

  Michel Bahuau, Anna Pelet, Dominique Vidaud, Thierry Lamireau, Brigitte Le Bail, Arnold Munnich, Michel Vidaud, Stanislas Lyonnet, Didier Lacombe
• Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

  (1 September, 2001)

  Rita Clementi, Udo zur Stadt, Gianfranco Savoldi, Stefania Varotto, Valentino Conter, Carmela De Fusco, Luigi D Notarangelo, Marion Schneider, Catherine Klersy, Gritta Janka, Cesare Danesino, Maurizio Aricò
• A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome (1 September, 2001)

  J P Boardman, P Syrris, S E Holder, N J Robertson, N Carter, K Lakhoo