Table of contents

Research Article

• Low segregation ratios in autosomal recessive disorders. (1 June, 1993)

  S Bundey, I D Young
• Isolation of the defective gene in X linked agammaglobulinaemia. (1 June, 1993)

  D Vetrie
• Population studies of the fragile X: a molecular approach. (1 June, 1993)

  P A Jacobs, H Bullman, J Macpherson, S Youings, V Rooney, A Watson, N R Dennis
• Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. (1 June, 1993)

  D G Evans, E J Ladusans, S Rimmer, L D Burnell, N Thakker, P A Farndon
• Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (1 June, 1993)

  I Dianzani, D W Howells, A Ponzone, J A Saleeba, P M Smooker, R G Cotton
• A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. (1 June, 1993)

  L I al-Gazali, M Khalil, K Devadas
• RFLP analysis for APP 717 mutations associated with Alzheimer's disease. (1 June, 1993)

  S R Zeldenrust, J Murrell, M Farlow, B Ghetti, A D Roses, M D Benson
• Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. (1 June, 1993)

  E C Landels, P M Green, I H Ellis, A H Fensom, M M Kaback, J Lim-Steele, K Zeiger, N Levy, M Bobrow
• Three patients with ring (X) chromosomes and a severe phenotype. (1 June, 1993)

  N R Dennis, A L Collins, J A Crolla, A E Cockwell, A M Fisher, P A Jacobs
• Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. (1 June, 1993)

  M A Pericak-Vance, K J Nunes, E Whisenant, D B Loeb, K W Small, J M Stajich, J B Rimmler, L H Yamaoka, D I Smith, H A Drabkin
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. (1 June, 1993)

  G A Wallis, B Sykes, P H Byers, C G Mathew, D Viljoen, P Beighton
• Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. (1 June, 1993)

  R Coleman, S A Genet, J I Harper, A O Wilkie
• Frequency of delta F508 in a Mexican sample of cystic fibrosis patients. (1 June, 1993)

  L Orozco, M Salcedo, J L Lezana, M Chávez, H Valdez, M Moreno, A Carnevale
• A large family with patent ductus arteriosus and unusual face. (1 June, 1993)

  H R Davidson
• Edward Meryon (1809-1880) and muscular dystrophy. (1 June, 1993)

  A E Emery, M L Emery
• A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia. (1 June, 1993)

  A Sweatman, R Lovering, H Middleton-Price, A Jones, G Morgan, R Levinsky, C Kinnon
• Cerebellar ataxia and ectodermal dysplasia in brothers. (1 June, 1993)

  M Baraitser, W Reardon, A McShane, J Wilson
• Deletion 9p and sex reversal. (1 June, 1993)

  C P Bennett, Z Docherty, S A Robb, P Ramani, J R Hawkins, D Grant
• Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. (1 June, 1993)

  N Morichon-Delvallez, A L Delezoide, M Vekemans
• Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (1 June, 1993)

  C E de Die-Smulders, R P Droog, M van Dijk, J P Fryns
• Congenital nystagmus cosegregating with a balanced 7;15 translocation. (1 June, 1993)

  M A Patton, S Jeffery, N Lee, C Hogg
• Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. (1 June, 1993)

  J Clayton-Smith, T Webb, X J Cheng, M E Pembrey, S Malcolm
• Molecular diagnosis of myotonic dystrophy. (1 June, 1993)

  R M Winter
• Weyers' ulnar ray/oligodactyly syndrome. (1 June, 1993)

  M S Lungarotti, A Calabro
• The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus. (1 June, 1993)

  F J Grundbacher