Table of contents

Research Article

• Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. (1 December, 1998)

  J B Ali, T Sepp, S Ward, A J Green, J R Yates
• Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. (1 December, 1998)

  C L Wu, N Thakker, W Neary, G Black, R Lye, R T Ramsden, A P Read, D G Evans
• Genetic implications of double primary cancers of the colorectum and endometrium. (1 December, 1998)

  T Pal, T Flanders, M Mitchell-Lehman, A MacMillan, J S Brunet, S A Narod, W D Foulkes
• Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). (1 December, 1998)

  G C Black, R Perveen, E Hatchwell, A Reck, J Clayton-Smith
• Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. (1 December, 1998)

  D Stoilova, A Child, G Brice, T Desai, M Barsoum-Homsy, N Ozdemir, L Chevrette, M F Adam, H J Garchon, R Pitts Crick, M Sarfarazi
• 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. (1 December, 1998)

  S W Knight, T J Vulliamy, N S Heiss, G Matthijs, K Devriendt, J M Connor, M D'Urso, A Poustka, P J Mason, I Dokal
• Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. (1 December, 1998)

  T Webb, A Clarke, F Hanefeld, J L Pereira, L Rosenbloom, C G Woods
• Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. (1 December, 1998)

  L J Sheffield, A H Osborn, W M Hutchison, D O Sillence, S M Forrest, S J White, H H Dahl
• The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. (1 December, 1998)

  R de Franchis, A Buoninconti, C Mandato, A Pepe, M P Sperandeo, R Del Gado, V Capra, E Salvaggio, G Andria, P Mastroiacovo
• Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. (1 December, 1998)

  A U López-Gutiérrez, L Riba, M L Ordoñez-Sánchez, S Ramírez-Jiménez, M Cerrillo-Hinojosa, M T Tusié-Luna
• Knowledge, views, and experience of 25 women with myotonic dystrophy. (1 December, 1998)

  C L Faulkner, H M Kingston
• A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. (1 December, 1998)

  J P Johnson, R Nelson, C E Schwartz
• Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. (1 December, 1998)

  B Pirola, L Bortotto, S Giglio, E Piovan, A Janes, R Guerrini, O Zuffardi
• The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease. (1 December, 1998)

  P G Kehoe, H Williams, P Holmans, G Wilcock, N J Cairns, J Neal, M J Owen
• Costello syndrome: two cases with embryonal rhabdomyosarcoma. (1 December, 1998)

  B Kerr, O B Eden, R Dandamudi, N Shannon, O Quarrell, A Emmerson, E Ladusans, M Gerrard, D Donnai
• Familial occurrence of congenital incomplete prepyloric mucosal diaphragm. (1 December, 1998)

  D B Gahukamble
• Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. (1 December, 1998)

  K Kabbaj, L Baala, H Chhoul, A Sefiani
• Segregation distortion in myotonic dystrophy. (1 December, 1998)

  A C Magee, A E Hughes
• Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. (1 December, 1998)

  D Melis, L Perone, M P Sperandeo, M S Sabbatino, M R Tuzzi, A Romano, G Parenti, G Andria
• De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. (1 December, 1998)

  C P Chen, S R Chern, C C Lee, W L Chen, M H Chen, K M Chang
• Kenny-Caffey syndrome without the CATCH 22 deletion. (1 December, 1998)

  T Yorifuji, J Muroi, A Uematsu
• Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. (1 December, 1998)

  J Goodship
• Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. (1 December, 1998)

  J Kirk
• Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. (1 December, 1998)

  M A Sabry, M Zaki, A Shaltout
• Tricuspid atresia in sibs. (1 December, 1998)

  A E Lin, L Rosti