Table of contents

Research Article

• The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. (1 September, 1995)

  C Wallgren-Pettersson, A Clarke, F Samson, M Fardeau, V Dubowitz, H Moser, T Grimm, R J Barohn, P G Barth
• The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. (1 September, 1995)

  M Tuchman, H Morizono, O Reish, X Yuan, N M Allewell
• Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. (1 September, 1995)

  A López de Munain, A M Cobo, J J Poza, D Navarrete, L Martorell, F Palau, J I Emparanza, M Baiget
• Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. (1 September, 1995)

  I Borg, J D Delhanty, M Baraitser
• Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (1 September, 1995)

  M C Willing, R L Slayton, S H Pitts, S P Deschenes
• Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. (1 September, 1995)

  N Masuda, J Goto, N Murayama, M Watanabe, I Kondo, I Kanazawa
• Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. (1 September, 1995)

  M Upadhyaya, J Maynard, M Osborn, S M Huson, M Ponder, B A Ponder, P S Harper
• Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm. (1 September, 1995)

  P Salo, J Ignatius, K O Simola, E Tahvanainen, H Kääriäinen
• Twenty-four cases of the EEC syndrome: clinical presentation and management. (1 September, 1995)

  P W Buss, H E Hughes, A Clarke
• Fetal valproate syndrome. (1 September, 1995)

  J Clayton-Smith, D Donnai
• Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. (1 September, 1995)

  D J Bunyan, J Shea-Simonds, A C Reck, D Finnis, D M Eccles
• Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. (1 September, 1995)

  J Poulton, H G Harley, J Dasmahapatra, G K Brown, C G Potter, B Sykes
• Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. (1 September, 1995)

  J C Oosterwijk, M J van der Wielen, E van de Vosse, E Voorhoeve, E Bakker
• Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. (1 September, 1995)

  A Chabás, B Cormand, D Grinberg, J M Burguera, S Balcells, J L Merino, I Mate, J A Sobrino, R Gonzàlez-Duarte, L Vilageliu
• Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. (1 September, 1995)

  S Khan, H McDowell, M Upadhyaya, A Fryer
• Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. (1 September, 1995)

  J Goodship, I Cross, P Scambler, J Burn
• Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. (1 September, 1995)

  M G Dunnill, C H Rodeck, A J Richards, D Atherton, B D Lake, M Petrou, R A Eady, F M Pope
• Research in canine and human genetic disease. (1 September, 1995)

  D R Sargan
• Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction. (1 September, 1995)

  V Schuster, S Seidenspinner, H W Kreth
• A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255. (1 September, 1995)

  C P Bennett, A J Barnicoat, F Cotter, Q Wang, C G Mathew
• Direct marketing of cystic fibrosis carrier screening: commercial push or population need? (1 September, 1995)

  H Cuckle, R Lilford, J Wilson, I Sehmi