Table of contents

Research Article

• Down syndrome in sub-Saharan Africa. (1 February, 1996)

  A L Christianson
• Gene deletions in spinal muscular atrophy. (1 February, 1996)

  N R Rodrigues, N Owen, K Talbot, S Patel, F Muntoni, J Ignatius, V Dubowitz, K E Davies
• Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. (1 February, 1996)

  M R Passos-Bueno, E S Moreira, S K Marie, R Bashir, L Vasquez, D R Love, M Vainzof, P Iughetti, J R Oliveira, E Bakker, T Strachan, K Bushby, M Zatz
• Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. (1 February, 1996)

  S M Gu, U Orth, A Veske, H Enders, K Klunder, M Schlosser, W Engel, E Schwinger, A Gal
• Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. (1 February, 1996)

  A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent
• Association between alcoholism and the dopamine D4 receptor gene. (1 February, 1996)

  T Muramatsu, S Higuchi, M Murayama, S Matsushita, M Hayashida
• The genetics of cornea plana congenita. (1 February, 1996)

  E Tahvanainen, H Forsius, J Kolehmainen, M Damsten, J Fellman, A de la Chapelle
• A genetic register for von Hippel-Lindau disease. (1 February, 1996)

  I R Maddock, A Moran, E R Maher, M D Teare, A Norman, S J Payne, R Whitehouse, C Dodd, M Lavin, N Hartley, M Super, D G Evans
• Familial psychiatric presentation of Huntington's disease. (1 February, 1996)

  S Lovestone, S Hodgson, P Sham, A M Differ, R Levy
• The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. (1 February, 1996)

  E Sidransky, N Tayebi, B K Stubblefield, W Eliason, A Klineburgess, G P Pizzolato, J N Cox, J Porta, A Bottani, C D DeLozier-Blanchet
• On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members. (1 February, 1996)

  S P Lyngstadaas, H Nordbo, T Gedde-Dahl, P S Thrane
• A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. (1 February, 1996)

  B A Evans, D J Bowen, P J Smith, P E Clayton, J W Gregory
• A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. (1 February, 1996)

  M Upadhyaya, S H Roberts, J Maynard, E Sorour, P W Thompson, M Vaughan, A O Wilkie, H E Hughes
• Nijmegen breakage syndrome. (1 February, 1996)

  I van der Burgt, K H Chrzanowska, D Smeets, C Weemaes
• Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. (1 February, 1996)

  S Distante, S Nasioulas, G R Somers, D J Cameron, M A Young, S M Forrest, R J Gardner
• Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. (1 February, 1996)

  P Guldberg, H L Levy, K F Henriksen, F Guttler
• Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby. (1 February, 1996)

  M A Sabry, D Obenbergerova, R Al-Sawan, Q A Saleh, S Farah, S A Al-Awadi, T I Farag
• The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing. (1 February, 1996)

  N T Potter
• Monozygotic twins with 22q11 deletion and discordant phenotypes. (1 February, 1996)

  A Fryer
• CTG repeat length in muscle from patients affected with myotonic dystrophy (DM) (1 February, 1996)

  M Zatz, M R Passos-Bueno, A Cerqueira, M Vainzof
• Selection for presymptomatic testing for Huntington's disease: who decides? (1 February, 1996)

  J Binedell, J R Soldan, P S Harper
• Apolipoprotein E genotype does not affect age at onset in patients with chromosome 14 encoded Alzheimer's disease. (1 February, 1996)