Table of contents

Research Article

• Mouse homologues of human hereditary disease. (1 January, 1994)

  A G Searle, J H Edwards, J G Hall
• Sotos syndrome: a study of the diagnostic criteria and natural history. (1 January, 1994)

  T R Cole, H E Hughes
• French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. (1 January, 1994)

  C Lavedan, H Hofmann-Radvanyi, C Boileau, C Bonaïti-Pellié, D Savoy, P Shelbourne, C Duros, J P Rabes, I Dehaupas, S Luce
• Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. (1 January, 1994)

  A Goldman, M Ramsay, T Jenkins
• Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. (1 January, 1994)

  P M Matthews, J Hopkin, R M Brown, J B Stephenson, D Hilton-Jones, G K Brown
• Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. (1 January, 1994)

  S Nørby, P Lestienne, I Nelson, I M Nielsen, H Schmalbruch, O Sjö, M Warburg
• Ascertainment and severity of Marfan syndrome in a Scottish population. (1 January, 1994)

  J R Gray, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, M Boxer
• Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. (1 January, 1994)

  S V Hodgson, D T Bishop, B Jay
• The spectrum of beta thalassaemia mutations in the UAE national population. (1 January, 1994)

  R Quaife, L al-Gazali, S Abbes, P Fitzgerald, A Fitches, D Valler, J M Old
• Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. (1 January, 1994)

  S P Horslen, O W Quarrell, M S Tanner
• Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome? (1 January, 1994)

  G Wolff, E Zimmermann, B Zimmerhackl, C Harnasch, C Jung, E Back
• Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. (1 January, 1994)

  J C Ramer, D B Vasily, R L Ladda
• De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. (1 January, 1994)

  F J Los, J O Van Hemel, H J Jacobs, S L Drop, J J van Dongen
• Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation. (1 January, 1994)

  B Blanco, F Loeza, A Carnevale
• Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome. (1 January, 1994)

  M I Tejada, E Mornet, E Tizzano, M Molina, M Baiget, A Boue
• Exclusion of two candidate loci for autosomal recessive nemaline myopathy. (1 January, 1994)

  E Tahvanainen, A H Beggs, C Wallgren-Pettersson
• Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients. (1 January, 1994)

  Y Wang, L L Yu, Q Sheng, C Meng, J Sun, S S Chen
• Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. (1 January, 1994)

  V Schuster, W Kress, K Kruse
• Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X. (1 January, 1994)

  M Desgeorges, M Laussel, B Rollin, J Demaille, M Claustres
• Cutis laxa: a feature of Costello syndrome. (1 January, 1994)

  S J Davies, H E Hughes
• Fibrodysplasia ossificans progressiva. (1 January, 1994)

  T E Herman
• Low segregation ratios in autosomal recessive disorders. (1 January, 1994)

  J C Oosterwijk
• Del(18p) syndrome with a single central maxillary incisor. (1 January, 1994)

  E Morales Peralta, A Lantigua
• Prevention of Mediterranean anaemia in Latium, Italy, today. (1 January, 1994)

  I Bianco, B Graziani, M Lerone, D Ponzini, M C Aliquò, A Amato, E Foglietta, M P Cappabianca, E Greco, P D Di Biagio