Table of contents

Research Article

• Mutation databases on the Web. (1 July, 1998)

  A I Wacey, E G Tuddenham
• Molecular screening for proximal 15q abnormalities in a mentally retarded population. (1 July, 1998)

  J Jacobsen, B H King, B L Leventhal, S L Christian, D H Ledbetter, E H Cook
• Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. (1 July, 1998)

  T Yorifuji, J Muroi, M Kawai, A Uematsu, H Sasaki, T Momoi, M Kaji, C Yamanaka, K Furusho
• Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs. (1 July, 1998)

  D Wieczorek, H Engels, R Viersbach, B Henke, G Schwanitz, E Passarge
• Choroid plexus cysts and aneuploidy. (1 July, 1998)

  D Peleg, J Yankowitz
• Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (1 July, 1998)

  A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn
• A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (1 July, 1998)

  C M Hall, N H Elçioglu, D G Shaw
• Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. (1 July, 1998)

  W K Lee, L Haddad, M J Macleod, A M Dorrance, D J Wilson, D Gaffney, M H Dominiczak, C J Packard, I N Day, S E Humphries, A F Dominiczak
• The fragile X syndrome. (1 July, 1998)

  B B de Vries, D J Halley, B A Oostra, M F Niermeijer
• Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. (1 July, 1998)

  E Nelis, P De Jonghe, E De Vriendt, P I Patel, J J Martin, C Van Broeckhoven
• Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. (1 July, 1998)

  A de Meeus, C Guittard, M Desgeorges, S Carles, J Demaille, M Claustres
• Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. (1 July, 1998)

  R Savarirayan, A Bankier
• Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female. (1 July, 1998)

  D de Silva, D Massie, J Drummond, D Couzin, J C Dean
• Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). (1 July, 1998)

  A S Plomp, J J Engelen, J C Albrechts, C E de Die-Smulders, A J Hamers
• Extensive form of aplasia cutis congenita: a new syndrome? (1 July, 1998)

  M S Park, S H Hahn, C H Hong, J S Kim, H S Kim
• Holoprosencephaly in deletions of proximal chromosome 14q. (1 July, 1998)

  K Devriendt, J P Fryns, C P Chen
• No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (1 July, 1998)

  W Kress, B Halliger-Keller, T Grimm, H Porschke, A Engelhardt, H H Goebel, B Müller-Mysok
• Another holoprosencephaly locus at 7q21.2? (1 July, 1998)

  J P Fryns