Table of contents

Original articles

• Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes (1 April, 1999)

  J Wirth, H-G Nothwang, S van der Maarel, C Menzel, G Borck, I Lopez-Pajares, K Brøndum-Nielsen, N Tommerup, M Bugge, H-H Ropers, T Haaf
• A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome (1 April, 1999)

  D O Robinson, P Dalton, P A Jacobs, K Mosse, M M Power, D H Skuse, J A Crolla
• Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation (1 April, 1999)

  Marjon van Slegtenhorst, Senno Verhoef, Anita Tempelaars, Lida Bakker, Qi Wang, Marja Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland
• Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma (1 April, 1999)

  Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák
• Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility (1 April, 1999)

  Susan Searle, Jenefer M Blackwell
• Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples (1 April, 1999)

  Barbara Pertl, Susanne Kopp, Peter M Kroisel, Lucia Tului, Bruno Brambati, Matteo Adinolfi
• High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects (1 April, 1999)

  G Goelen, E Teugels, M Bonduelle, B Neyns, J De Grève
• The accuracy of diagnoses as reported in families with cancer: a retrospective study (1 April, 1999)

  Fiona S Douglas, Lindsay C O’Dair, Marion Robinson, D Gareth R Evans, Sally A Lynch
• Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family (1 April, 1999)

  Tracey A Smith, Shu C Yau, Martin Bobrow, Stephen J Abbs
• ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy (1 April, 1999)

  Kathleen M Fitzgerald, Gerhard W Cibis, Ann Headrick Gettel, Robert Rinaldi, David J Harris, Robert A White
• Association of a lymphotoxin α gene polymorphism and atopy in Italian families (1 April, 1999)

  Elisabetta Trabetti, Cristina Patuzzo, Giovanni Malerba, Roberta Galavotti, Laura Carmen Martinati, Attilio L Boner, Pier Franco Pignatti