Table of contents

Research Article

• X chromosome inactivation and the diagnosis of X linked disease in females. (1 March, 1993)

  R M Brown, G K Brown
• Age at onset in Huntington's disease and methylation at D4S95. (1 March, 1993)

  W Reik, E R Maher, P J Morrison, A E Harding, S A Simpson
• A study of DNA methylation in myotonic dystrophy. (1 March, 1993)

  D J Shaw, S Chaudhary, S A Rundle, S Crow, J D Brook, P S Harper, H G Harley
• Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk. (1 March, 1993)

  O Knobloch, F Pelz, U Wick, D L Nelson, B Zoll
• Mutations of the androgen receptor gene identified in perineal hypospadias. (1 March, 1993)

  J A Batch, B A Evans, I A Hughes, M N Patterson
• Mapping of the X linked form of hyper IgM syndrome (HIGM1) (1 March, 1993)

  M Padayachee, R J Levinsky, C Kinnon, A Finn, C McKeown, C Feighery, L D Notarangelo, R W Hendriks, A P Read, S Malcolm
• Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family. (1 March, 1993)

  U Lenk, S Demuth, U Kräft, R Hanke, A Speer
• Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk. (1 March, 1993)

  W Schröder, L Petruschka, M Wehnert, M Zschiesche, G Seidlitz, J J Hopwood, F H Herrmann
• Refining the genetic location of the gene for X linked hydrocephalus within Xq28. (1 March, 1993)

  M Jouet, E Feldman, J Yates, D Donnai, J Paterson, D Siggers, S Kenwrick
• A 5' splice site mutation in fucosidosis. (1 March, 1993)

  M Williamson, H Cragg, J Grant, K Kretz, J O'Brien, P J Willems, E Young, B Winchester
• Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). (1 March, 1993)

  M Nellist, P T Brook-Carter, J M Connor, D J Kwiatkowski, P Johnson, J R Sampson
• Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. (1 March, 1993)

  I Dianzani, C Camaschella, G Saglio, G B Ferrero, S Ramus, A Ponzone, R G Cotton
• Genetic background of clinical homogeneity of phenylketonuria in Poland. (1 March, 1993)

  J Jaruzelska, R Matuszak, S Lyonnet, F Rey, J Rey, J Filipowicz, K Borski, A Munnich
• Hereditary anaemias in Portugal: epidemiology, public health significance, and control. (1 March, 1993)

  M C Martins, G Olim, J Melo, H A Magalhães, M O Rodrigues
• Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region. (1 March, 1993)

  P I Motum, A Kearney, T J Hamilton, R J Trent
• Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity? (1 March, 1993)

  D Soekarman, J P Fryns
• Interstitial deletion of chromosome 10q23: a new case and review. (1 March, 1993)

  S A Farrell, W Szymonowicz, G Chow, A M Summers
• A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities. (1 March, 1993)

  J Elliott, E L Maltby, B Reynolds
• Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. (1 March, 1993)

  D Bonneau, F Raymond, C Kremer, J M Klossek, J Kaplan, F Patte
• Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). (1 March, 1993)

  D T Bonthron, K M Barlow, A M Burt, D G Barr
• Workshop of the Commission of the European Communities on Ethics of Human Genome analysis: survey of the European discussion. (1 March, 1993)

  O De Dinechin, R Harris, M Kettner, L Koch, E Zwierlein
• Aphasia, deafness, or mental retardation. (1 March, 1993)

  A G Gordon
• Sex differences in the location of a spina bifida lesion. (1 March, 1993)

  H S Cuckle, N J Wald, R Althouse