Table of contents

Research Article

• A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. (1 December, 1992)

  D G Evans, S M Huson, D Donnai, W Neary, V Blair, D Teare, V Newton, T Strachan, R Ramsden, R Harris
• A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. (1 December, 1992)

  D G Evans, S M Huson, D Donnai, W Neary, V Blair, V Newton, T Strachan, R Harris
• Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. (1 December, 1992)

  E J Meijers-Heijboer, L A Sandkuijl, H G Brunner, H J Smeets, A J Hoogeboom, W H Deelen, J O van Hemel, M R Nelen, D F Smeets, M F Niermeijer
• Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. (1 December, 1992)

  M A Crocq, R Mant, P Asherson, J Williams, Y Hode, A Mayerova, D Collier, L Lannfelt, P Sokoloff, J C Schwartz
• Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. (1 December, 1992)

  J R Sampson, L A Janssen, L A Sandkuijl
• Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. (1 December, 1992)

  L A Janssen, L A Sandkuijl, J R Sampson, D J Halley
• Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. (1 December, 1992)

  A Superti-Furga, M Raghunath, P J Willems
• Constitutional ring chromosomes and tumour suppressor genes. (1 December, 1992)

  N Tommerup, R Lothe
• Severity of chest disease in cystic fibrosis patients in relation to their genotypes. (1 December, 1992)

  L N al-Jader, A L Meredith, H C Ryley, J P Cheadle, S Maguire, G Owen, M C Goodchild, P S Harper
• A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. (1 December, 1992)

  T Uemichi, J R Murrell, S Zeldenrust, M D Benson
• Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. (1 December, 1992)

  L V Nicholson, K M Bushby, M A Johnson, J T den Dunnen, I B Ginjaar, G J van Ommen
• Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. (1 December, 1992)

  Y Hiraishi, S Kato, T Ishihara, T Takano
• Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. (1 December, 1992)

  E R Maher, E Bentley, S J Payne, F Latif, F M Richards, M Chiano, S Hosoe, J R Yates, M Linehan, D E Barton
• Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. (1 December, 1992)

  M Jay, A C Bird, A N Moore, B Jay
• Causes of death in patients with Huntington's disease and in unaffected first degree relatives. (1 December, 1992)

  S A Sørensen, K Fenger
• Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. (1 December, 1992)

  D Craufurd, A Tyler
• Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family. (1 December, 1992)

  J Tarleton, S Wong, C Schwartz
• Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. (1 December, 1992)

  T Webb, J Clayton-Smith, X J Cheng, J H Knoll, M Lalande, M E Pembrey, S Malcolm
• Ovarian cancer family and prophylactic choices. (1 December, 1992)

  D M Eccles, R S Houlston
• The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. (1 December, 1992)

  R Hughes-Benzie, J Allanson, A Hunter, T Cole