Table of contents

Research Article

• Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. (1 November, 1995)

  J de Belleroche, R Orrell, A King
• Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. (1 November, 1995)

  J R Sampson, A Patel, A D Mee
• Evaluation of candidate genes for familial brachydactyly. (1 November, 1995)

  J M Mastrobattista, P Dollé, S H Blanton, H Northrup
• Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (1 November, 1995)

  F C Mansergh, P F Kenna, G Rudolph, T Meitinger, G J Farrar, R Kumar-Singh, J Scorer, A M Hally, L Mynett-Johnson, M M Humphries
• Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. (1 November, 1995)

  F Kagore, P M Lund
• Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP). (1 November, 1995)

  D de Silva, F Gilbert, G Needham, H Deans, P Turnpenny, N Haites
• Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects. (1 November, 1995)

  L A Tyfield, J Zschocke, A Stephenson, F Cockburn, A Harvie, J L Bidwell, N A Wood, L P Hunt
• Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. (1 November, 1995)

  S Langlois, S L Yong, R D Wilson, L C Kwong, D K Kalousek
• Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy. (1 November, 1995)

  T M Olson, S N Thibodeau, P A Lundquist, D J Schaid, V V Michels
• The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). (1 November, 1995)

  J L Tolmie, P Shillito, R Hughes-Benzie, J B Stephenson
• Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. (1 November, 1995)

  P A Crossey, C Eng, M Ginalska-Malinowska, T W Lennard, D C Wheeler, B A Ponder, E R Maher
• Gonadal mosaicism for incontinentia pigmenti in a healthy male. (1 November, 1995)

  T T Kirchman, M L Levy, R A Lewis, M H Kanzler, D L Nelson, A E Scheuerle
• A familial Xp+ chromosome, dup (Xq26.3-->qter). (1 November, 1995)

  A I Vasquez, H Rivera, L Bobadilla, J A Crolla
• Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). (1 November, 1995)

  M Masuno, K Imaizumi, G Nishimura, M Nakamura, I Saito, K Akagi, Y Kuroki
• Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder. (1 November, 1995)

  L B Holmes, R W Redline, D L Brown, A J Williams, T Collins
• Pfeiffer type cardiocranial syndrome: a third case report. (1 November, 1995)

  L Williamson-Kruse, L G Biesecker
• Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. (1 November, 1995)

  M Newport, M Levin, J Blackwell, M A Shaw, R Williamson, C Huxley
• Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree. (1 November, 1995)

  E Pintado, Y de Diego, A Hmadcha, M Carrasco, J Sierra, M Lucas
• Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. (1 November, 1995)

  J M Buerstedde, P Alday, J Torhorst, W Weber, H Müller, R Scott
• Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. (1 November, 1995)

  R O O'Brien, N L Taske, P M Hansbro, K I Matthaei, S P Hogan, M A Denborough, P S Foster
• Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. (1 November, 1995)

  S Xu, M Nakazawa, M Tamai, A Gal
• Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote. (1 November, 1995)

  T Bienvenu, C Beldjord, J C Kaplan, D Hubert, D Dusser
• MURCS in a male. (1 November, 1995)

  J Zlotogora