Table of contents

Research Article

• Cancer families: what risks are they given and do the risks affect management? (1 December, 1996)

  E M Rosser, J A Hurst, C J Chapman
• Microsatellite instability in early onset and familial colorectal cancer. (1 December, 1996)

  C Brassett, J A Joyce, N J Froggatt, G Williams, D Furniss, S Walsh, R Miller, D G Evans, E R Maher
• Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. (1 December, 1996)

  C A Joyce, B Zorich, S J Pike, J C Barber, N R Dennis
• Fine mapping of the dyskeratosis congenita locus in Xq28. (1 December, 1996)

  S W Knight, T Vulliamy, G L Forni, D Oscier, P J Mason, I Dokal
• Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (1 December, 1996)

  A Raas-Rothschild, S Manouvrier, M Gonzales, J P Farriaux, S Lyonnet, A Munnich
• The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. (1 December, 1996)

  C Tysoe, D Robinson, C Brayne, T Dening, E S Paykel, F A Huppert, D C Rubinsztein
• Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. (1 December, 1996)

  B B de Vries, C C Jansen, A A Duits, C Verheij, R Willemsen, J O van Hemel, A M van den Ouweland, M F Niermeijer, B A Oostra, D J Halley
• Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. (1 December, 1996)

  T Kubota, S Aradhya, M Macha, A C Smith, L C Surh, J Satish, M S Verp, H L Nee, A Johnson, S L Christan, D H Ledbetter
• Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis. (1 December, 1996)

  D Jawaheer, A J MacGregor, P K Gregersen, A J Silman, W E Ollier
• Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. (1 December, 1996)

  K Talbot, N Rodrigues, G Bernert, R Bittner, K Davies
• A general method for the detection of large CAG repeat expansions by fluorescent PCR. (1 December, 1996)

  J P Warner, L H Barron, D Goudie, K Kelly, D Dow, D R Fitzpatrick, D J Brock
• Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. (1 December, 1996)

  H Yamagishi, S Kato, Y Hiraishi, T Ishihara, J Hata, N Matsuo, T Takano
• Lay understanding of genetics: a test of a hypothesis. (1 December, 1996)

  M Richards, M Ponder
• Pendred syndrome. (1 December, 1996)

  W Reardon, R C Trembath
• Rapid diagnostic test for the major mutation underlying Batten disease. (1 December, 1996)

  I Järvelä, H M Mitchison, P B Munroe, A M O'Rawe, S E Mole, A C Syvänen
• Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. (1 December, 1996)

  D Avramopoulos, G Kitsos, E Economou-Petersen, M Grigoriadou, D Vassilopoulos, C Papageorgiou, K Psilas, M B Petersen
• Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). (1 December, 1996)

  B R Haddad, A E Lin, H Wyandt, A Milunsky
• Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. (1 December, 1996)

  V V Ionasescu, C Searby, S A Greenberg
• Marfan syndrome. (1 December, 1996)

  G Galasko
• Selection for presymptomatic testing for Huntington's disease: who decides? A reply from the Victorian Clinical Genetics Service, Murdoch Institute, Melbourne, Australia. (1 December, 1996)

  S Mansie, L Sheffield, S Forrest, E Chiu, J Lloyd
• Heterotaxia syndromes and 22q11 deletion. (1 December, 1996)

  B Marino, M C Digilio, A Giannotti, B Dallapiccola
• First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation. (1 December, 1996)

  R Padoan, A Giunta, M T Marzano, M Seia, V Raia, M Ferrari, L Cremonesi