Table of contents

Research Article

• The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). (1 April, 1994)

  V A McKusick, J S Amberger
• Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. (1 April, 1994)

  R J Oostra, P A Bolhuis, F A Wijburg, G Zorn-Ende, E M Bleeker-Wagemakers
• Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. (1 April, 1994)

  J Zonana, M Jones, A Clarke, J Gault, B Muller, N S Thomas
• A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. (1 April, 1994)

  T Coelho, A Sousa, E Lourenço, J Ramalheira
• Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. (1 April, 1994)

  P Turnpenny, C Clark, K Kelly
• The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. (1 April, 1994)

  A J Carr, A A Chiodo, J M Hilton, C W Chow, A Hockey, W G Cole
• Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. (1 April, 1994)

  J C Barber, K H Ellis, L V Bowles, J D Delhanty, R F Ede, B M Male, D M Eccles
• Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. (1 April, 1994)

  S J Steinberg, C P Ward, A H Fensom
• Dermal eccrine cylindromatosis. (1 April, 1994)

  I D van Balkom, R C Hennekam
• Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? (1 April, 1994)

  M S Fewtrell, P K Tam, A H Thomson, M Fitchett, J Currie, S M Huson, L M Mulligan
• Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). (1 April, 1994)

  D Pilz, O W Quarrell, E W Jones
• Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? (1 April, 1994)

  T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, T Okuno
• Isolation and characterisation of a panel of cosmids which allows unequivocal identification of chromosome deletions involving the RB1 gene using fluorescence in situ hybridisation. (1 April, 1994)

  J K Cowell, R Jaju, H Kempski
• A new missense mutation of fibrillin in a patient with Marfan syndrome. (1 April, 1994)

  D R Hewett, J R Lynch, A Child, B C Sykes
• Genetic heterogeneity in Rieger eye malformation. (1 April, 1994)

  E Legius, C E de Die-Smulders, F Verbraak, H Habex, R Decorte, P Marynen, J P Fryns, J J Cassiman
• Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. (1 April, 1994)

  F el Kerch, A Sefiani, K Azibi, N Boutaleb, M Yahyaoui, A Bentahila, M C Vinet, F Leturcq, L Bachner, J Beckmann
• Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21. (1 April, 1994)

  P A Clark, T Lester, L Villard, M Fontes, C Kinnon
• Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. (1 April, 1994)

  T Ogata, N Matsuo