Table of contents

Research Article

• German family study on hereditary breast-ovarian cancer. (1 August, 1996)

  U Hamann, H Becher, T Zimmermann, K Pella, G Bastert, J Chang-Claude
• Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. (1 August, 1996)

  P Hutter, A Couturier, R J Scott, P Alday, C Delozier-Blanchet, F Cachat, S E Antonarakis, F Joris, M Gaudin, L D'Amato, J M Buerstedde
• Distribution of oculocutaneous albinism in Zimbabwe. (1 August, 1996)

  P M Lund
• Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. (1 August, 1996)

  I Matsuda, T Matsuura, A Nishiyori, S Komaki, R Hoshide, T Matsumoto, M Funakoshi, K Kiwaki, F Endo, A Hata, M Shimadzu, M Yoshino
• The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. (1 August, 1996)

  A Winterpacht, A Superti-Furga, U Schwarze, H Stöss, B Steinmann, J Spranger, B Zabel
• PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. (1 August, 1996)

  F A Hol, M P Geurds, S Chatkupt, Y Y Shugart, R Balling, C T Schrander-Stumpel, W G Johnson, B C Hamel, E C Mariman
• No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. (1 August, 1996)

  D Campion, A Brice, D Hannequin, F Charbonnier, B Dubois, C Martin, A Michon, C Penet, M Bellis, A Calenda, M Martinez, Y Agid, F Clerget-Darpoux, T Frebourg
• Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. (1 August, 1996)

  L C Adès, E A Haan, A F Colley, R I Richard
• Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35. (1 August, 1996)

  M A Shaw, D Clayton, S E Atkinson, H Williams, N Miller, D Sibthorpe, J M Blackwell
• PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. (1 August, 1996)

  N N Ahmad, D M McDonald-McGinn, P Dixon, E H Zackai, W S Tasman
• Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. (1 August, 1996)

  I Redonnet-Vernhet, J K Ploos van Amstel, R P Jansen, R A Wevers, R Salvayre, T Levade
• Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. (1 August, 1996)

  A J Walley, W O Cookson
• Rett syndrome. (1 August, 1996)

  A Clarke
• X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets. (1 August, 1996)

  K H Orstavik, R E Orstavik, J Halse, J Knudtzon
• Gorlin syndrome associated with midline nasal dermoid cyst. (1 August, 1996)

  E K Pivnick, A W Walter, M D Lawrence, M E Smith
• Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review. (1 August, 1996)

  L S Chitty, N Dennis, M Baraitser
• Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D. (1 August, 1996)

  R B Parad
• Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. (1 August, 1996)

  Z Mohamed, C Bell, H M Hammer, C A Converse, L Esakowitz, N E Haites
• Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. (1 August, 1996)

  F Chen, L Slife, T Kishida, J Mulvihill, S E Tisherman, B Zbar
• Prevalence of 22q11 microdeletion. (1 August, 1996)

  S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, N Philip
• Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence? (1 August, 1996)

  M G Butler, P Mowrey