Table of contents

Research Article

• The genetics of malignant hyperthermia. (1 February, 1993)

  S P Ball, K J Johnson
• The fragile X syndrome: no evidence for any recent mutations. (1 February, 1993)

  A P Smits, J C Dreesen, J G Post, D F Smeets, C de Die-Smulders, T Spaans-van der Bijl, L C Govaerts, S T Warren, B A Oostra, B A van Oost
• Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. (1 February, 1993)

  G A Flynn, M C Hirst, S J Knight, J N Macpherson, J C Barber, A V Flannery, K E Davies, V J Buckle
• Imprinting in Albright's hereditary osteodystrophy. (1 February, 1993)

  S J Davies, H E Hughes
• Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. (1 February, 1993)

  F M Richards, E R Maher, F Latif, M E Phipps, K Tory, M Lush, P A Crossey, B Oostra, P Enblad, K H Gustavson
• Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (1 February, 1993)

  J R Yates, J P Warner, J A Smith, F Deymeer, J P Azulay, I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska, N A Affara, M A Ferguson-Smith
• On the genetics of mandibular prognathism: analysis of large European noble families. (1 February, 1993)

  G Wolff, T F Wienker, H Sander
• A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. (1 February, 1993)

  M D Benson, J Julien, J Liepnieks, S Zeldenrust, M D Benson
• A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. (1 February, 1993)

  M D Benson, J C Turpin, G Lucotte, S Zeldenrust, B LeChevalier, M D Benson
• Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. (1 February, 1993)

  D L Harmon, D Gardner-Medwin, J L Stirling
• Mutation analysis in Turkish phenylketonuria patients. (1 February, 1993)

  M Ozgüç, I Ozalp, T Coşkun, E Yilmaz, H Erdem, S Ayter
• Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? (1 February, 1993)

  M Zatz, H Vallada, M S Melo, M R Passos-Bueno, A H Vieira, M Vainzof, M Gill, V Gentil
• A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. (1 February, 1993)

  D Hernandez, C M McConville, M Stacey, C G Woods, M M Brown, P Shutt, G Rysiecki, A M Taylor
• Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. (1 February, 1993)

  V S Baranov
• The specialty of clinical genetics: European Society of Human Genetics survey. (1 February, 1993)

  R Harris, J A Rhind
• Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients. (1 February, 1993)

  T Ivaschenko, V S Baranov
• A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? (1 February, 1993)

  I D Young, J M Zuccollo, N J Broderick
• Brachymorphism-onychodysplasia-dysphalangism syndrome. (1 February, 1993)

  A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, L Koulischer
• Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA. (1 February, 1993)

  A MacKenzie, A Besner, N Roy
• Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. (1 February, 1993)

  A Curtis, R J Richardson, J Boohene, A Jackson, R Nelson, S S Bhattacharya
• Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. (1 February, 1993)

  B G Kousseff, P Papenhausen, Y P Essig, M P Torres
• Chromosome 20 long arm deletion in an elderly malformed man. (1 February, 1993)

  F Shabtai, E Ben-Sasson, S Arieli, J Grinblat
• Hydrocephalus in Hajdu-Cheney syndrome. (1 February, 1993)

  L C Adès, L L Morris, E A Haan