Table of contents

Research Article

• Inv dup(15) supernumerary marker chromosomes. (1 August, 1994)

  T Webb
• Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family. (1 August, 1994)

  C E de Die-Smulders, C J Höweler, J F Mirandolle, H G Brunner, V Hovers, H Brüggenwirth, H J Smeets, J P Geraedts
• Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. (1 August, 1994)

  P Edery, A Pelet, L M Mulligan, L Abel, T Attié, E Dow, D Bonneau, A David, W Flintoff, D Jan
• Parental origin of transcription from the human GNAS1 gene. (1 August, 1994)

  R Campbell, C M Gosden, D T Bonthron
• First trimester prenatal diagnosis of Menkes disease by DNA analysis. (1 August, 1994)

  Z Tümer, T Tønnesen, J Böhmann, W Marg, N Horn
• Neoplastic diseases in families of breast cancer patients. (1 August, 1994)

  H Tulinius, G H Olafsdottir, H Sigvaldason, L Tryggvadottir, K Bjarnadottir
• Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. (1 August, 1994)

  S Tuzgöl, S M Bijvoet, T Bruin, J J Kastelein, M R Hayden
• Muir-Torre syndrome: a variant of the cancer family syndrome. (1 August, 1994)

  N R Hall, M A Williams, V A Murday, J A Newton, D T Bishop
• An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin. (1 August, 1994)

  J L Fernández, S Pereira, A Campos, J Gosálvez, V Goyanes
• Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. (1 August, 1994)

  G B Schaefer, A L Rosenbloom, J Guevara-Aguirre, E A Campbell, F Ullrich, K Patil, J L Frias
• Congenital contractural arachnodactyly (Beals syndrome). (1 August, 1994)

  D Viljoen
• Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. (1 August, 1994)

  H Slater, J H Shaw, G Dawson, A Bankier, S M Forrest
• Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). (1 August, 1994)

  J Wolstenholme, J Brown, K G Masters, C Wright, C J English
• X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. (1 August, 1994)

  T Kuznetzova, A Baranov, T Ivaschenko, G A Savitsky, O E Lanceva, M R Wang, M Giollant, P Malet, T Kascheeva, V Vakharlovsky
• Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35). (1 August, 1994)

  D R Romain, N G Mackenzie, D Moss, L M Columbano-Green, R H Smythe, R G Parfitt, J W Dixon
• Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). (1 August, 1994)

  S Castellví-Bel, T Matilla, M I Banchs, H Kruyer, J Corral, M Milà, X Estivill
• Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology. (1 August, 1994)

  D St Clair
• Further family with autosomal dominant patent ductus arteriosus. (1 August, 1994)

  C G Woods, L J Sheffield
• Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. (1 August, 1994)

  H Cragg, B Winchester, H C Seo, J O'Brien, D Swallow