Table of contents

Research Article

• Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. (1 March, 1994) Free

  A Hirvasniemi, H Lang, A E Lehesjoki, J Leisti
• On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. (1 March, 1994) Free

  T Grimm, G Meng, S Liechti-Gallati, T Bettecken, C R Müller, B Müller
• Genetic study of indirect inguinal hernia. (1 March, 1994) Free

  Y Gong, C Shao, Q Sun, B Chen, Y Jiang, C Guo, J Wei, Y Guo
• X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. (1 March, 1994) Free

  S Cochrane, J Bergoffen, N D Fairweather, E Müller, M L Mostacciuolo, A P Monaco, K H Fischbeck, N E Haites
• Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease. (1 March, 1994) Free

  M Liddell, J Williams, A Bayer, F Kaiser, M Owen
• Familial pericentric inversion inv(8)(p23q11). (1 March, 1994) Free

  H Boyd, J Kaste, E Hovi, U M Ritanen-Mohammed, H Kääriäinen, A de la Chapelle, A E Lehesjoki
• Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe. (1 March, 1994) Free

  R T Howell, R Millener, S Thorne, J O'Loughlin, J Brassey, A McDermott
• Thalassaemia in Azerbaijan. (1 March, 1994) Free

  A M Kuliev, I M Rasulov, T Dadasheva, E I Schwarz, C Rosatelli, L Saba, A Meloni, E Gemidjioglu, M Petrou, B Modell
• Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. (1 March, 1994) Free

  P E Jardine, P D Cotter, S A Johnson, E J Fitzsimons, L Tyfield, P W Lunt, D F Bishop
• Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (1 March, 1994) Free

  W Reardon, L van Herwerden, C Rose, B Jones, S Malcolm, R M Winter
• Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. (1 March, 1994) Free

  S Gerber, S Odent, A Postel-Vinay, N Janin, J L Dufier, A Munnich, J Frezal, J Kaplan
• Autosomal recessive disorders among Arabs: an overview from Kuwait. (1 March, 1994) Free

  A S Teebi
• Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier. (1 March, 1994) Free

  C A Brandt, T Lyngbye, S Pedersen, L Bolund, U Friedrich
• Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. (1 March, 1994) Free

  M C Digilio, A Giannotti, G Floridia, F Uccellatore, R Mingarelli, C Danesino, B Dallapiccola, O Zuffardi
• Apparent SMA I unlinked to 5q. (1 March, 1994) Free

  J M Cobben, H Scheffer, M de Visser, J H Begeer, W M Molenaar, G van der Steege, C H Buys, G J van Ommen, L P Ten Kate
• X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype. (1 March, 1994) Free

  R Ogle, M DeSouza, C Cunningham, B Kerr, D Sillence
• A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population. (1 March, 1994) Free

  D Gaffney, R A Campbell
• Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. (1 March, 1994) Free

  R C Hennekam
• Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. (1 March, 1994) Free

  C J English, J A Goodship, A Jackson, M Lowry, J Wolstenholme
• Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome. (1 March, 1994) Free

  M Krajinovic, K Ivanovic, L Mestroni, V Diklic, J Nikolis
• Neurogenic bladder in Hunter's syndrome. (1 March, 1994) Free

  K Koyama, Y Moda, A Sone, H Tanaka, Y Hino
• Epidermal mosaicism and Blaschko's lines. (1 March, 1994) Free

  J Chemke
• Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia. (1 March, 1994) Free

  C Laurent, C Savoye, D Samolyk, R Meloni, J Mallet, D Campion, M Martinez, T D'Amato, C Bastard, S Dollfus
• Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. (1 March, 1994) Free

  G Gillessen-Kaesbach, B Horsthemke
• Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. (1 March, 1994) Free

  B T Teh, N K Hayward, M K Walters, J J Shepherd, S Wilkinson, M Nordenskjold, C Larsson