Table of contents

Research Article

• Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. (1 April, 1993)

  J Hästbacka, R Salonen, P Laurila, A de la Chapelle, I Kaitila
• Possible X linked congenital mitochondrial cardiomyopathy in three families. (1 April, 1993)

  K H Orstavik, F Skjörten, M Hellebostad, P Hågå, A Langslet
• Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. (1 April, 1993)

  S Humphries, L King-Underwood, V Gudnason, M Seed, S Delattre, V Clavey, J C Fruchart
• Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. (1 April, 1993)

  A J Walley, M L Barth, I Ellis, A H Fensom, A Harris
• Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. (1 April, 1993)

  S Kleiman, L Vanagaite, J Bernstein, G Schwartz, N Brand, A Elitzur, S L Woo, Y Shiloh
• Onset symptoms in 510 patients with Huntington's disease. (1 April, 1993)

  L Di Maio, F Squitieri, G Napolitano, G Campanella, J A Trofatter, P M Conneally
• Suicide risk in Huntington's disease. (1 April, 1993)

  L Di Maio, F Squitieri, G Napolitano, G Campanella, J A Trofatter, P M Conneally
• Polydactyly: a study of a five generation Indian family. (1 April, 1993)

  U Radhakrishna, A S Multani, J V Solanki, V C Shah, N J Chinoy
• Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. (1 April, 1993)

  C Oudet, C Weber, J Kaplan, B Segues, M F Croquette, E O Roman, A Hanauer
• An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content. (1 April, 1993)

  M Witt, K Michalczak, A Latos-Bielenska, J Jaruzelska, I Kuczora, M Lopez
• The dopamine D3 receptor gene: no association with bipolar affective disorder. (1 April, 1993)

  S Shaikh, D Ball, N Craddock, D Castle, N Hunt, R Mant, M Owen, D Collier, M Gill
• Otopalatodigital syndrome type II. (1 April, 1993)

  S E Holder, R M Winter
• A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. (1 April, 1993)

  N Tommerup, Z Tümer, T Tønnesen, N Horn
• Prevalence of cystic fibrosis mutations in the Grampian region of Scotland. (1 April, 1993)

  Z H Miedzybrodzka, J C Dean, G Russell, J A Friend, K F Kelly, N E Haites
• Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis. (1 April, 1993)

  A King, H Houlden, J Hardy, R Lane, A Chancellor, J de Belleroche
• Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients. (1 April, 1993)

  J P Fryns, P Thiry, J Geutjens, E Smeets, L Vinken, H Van den Berghe
• Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? (1 April, 1993)

  J P Fryns, P Moerman
• Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. (1 April, 1993)

  W Reardon, N Lewis, H E Hughes
• Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations. (1 April, 1993)

  S Gerboni, G Sabatino, R Mingarelli, B Dallapiccola
• Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features. (1 April, 1993)

  U Trautmann, R A Pfeiffer, U Seufert-Satomi, H U Tietze
• Abstracts of the British Medical Genetics Conference. Nottingham, 23-25 September 1992. (1 April, 1993)