Table of contents

Research Article

• The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. (1 November, 1993)

  P K Mistry, T M Cox
• Molecular mechanisms in Angelman syndrome: a survey of 93 patients. (1 November, 1993)

  C T Chan, J Clayton-Smith, X J Cheng, J Buxton, T Webb, M E Pembrey, S Malcolm
• Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. (1 November, 1993)

  C Holding, D Bentley, R Roberts, M Bobrow, C Mathew
• Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population. (1 November, 1993)

  B Peral, J L San Millán, C Hernández, A Valero, G M Lathrop, J S Beckmann, F Moreno
• Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). (1 November, 1993)

  M C Koch, K Ricker, M Otto, F Wolf, B Zoll, C Lorenz, K Steinmeyer, T J Jentsch
• Chromosomal localisation of a gene(s) for Turner stigmata on Yp. (1 November, 1993)

  T Ogata, C Tyler-Smith, S Purvis-Smith, G Turner
• Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. (1 November, 1993)

  Y Zhang, R McMahon, S J Charles, J S Green, A T Moore, D E Barton, J R Yates
• Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. (1 November, 1993)

  E Rossi, G Floridia, M Casali, C Danesino, G Chiumello, F Bernardi, I Magnani, L Papi, M Mura, O Zuffardi
• Diagnostic criteria and genetics of the PEHO syndrome. (1 November, 1993)

  M Somer
• Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. (1 November, 1993)

  M L Martínez-Frías, E Bermejo, M Urioste, H Huertas, I Arroyo
• Neural tube defects: a survey of lesion descriptions made by different European pathologists. (1 November, 1993)

  H Dolk, M J Seller
• Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome. (1 November, 1993)

  J C Dean, S Cross, K Jennings
• Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. (1 November, 1993)

  U Lenk, R Hanke, U Kräft, K Grade, I Grunewald, A Speer
• Dystrophin analysis in idiopathic dilated cardiomyopathy. (1 November, 1993)

  V V Michels, G M Pastores, P P Moll, D J Driscoll, F A Miller, J C Burnett, R J Rodeheffer, J A Tajik, A H Beggs, L M Kunkel
• Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). (1 November, 1993)

  N Tommerup, C A Brandt, S Pedersen, L Bolund, J Kamper
• Epidermal naevi and bullous aplasia cutis congenita in a neonate. (1 November, 1993)

  J S Fryburg, K E Greer
• Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. (1 November, 1993)

  J Jenderny, A Caliebe, C Beyer, W Grote
• 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. (1 November, 1993)

  I E Järvelä, M K Salo, P Santavuori, R K Salonen
• X linked recessive thrombocytopenia. (1 November, 1993)

  H H Knox-Macaulay, L Bashawri, K E Davies
• Pseudotrisomy 13 and autosomal recessive holoprosencephaly. (1 November, 1993)

  M J Seller, L S Chitty, H Dunbar
• Skeletal malformations and polycystic kidney disease. (1 November, 1993)

  R M Winter
• A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens. (1 November, 1993)

  C Williams, E S Mayall, R Williamson, A Hirsh, H Cookson