Table of contents

Research Article

• Menkes disease: recent advances and new aspects. (1 April, 1997)

  Z Tümer, N Horn
• Global prevalence of putative haemochromatosis mutations. (1 April, 1997)

  A T Merryweather-Clarke, J J Pointon, J D Shearman, K J Robson
• The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. (1 April, 1997)

  R Axton, I Hanson, S Danes, G Sellar, V van Heyningen, J Prosser
• RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. (1 April, 1997)

  M M Power, R S James, J C Barber, A M Fisher, P J Wood, B A Leatherdale, D E Flanagan, E Hatchwell
• Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. (1 April, 1997)

  K E Keating, L Giblin, P J Lynch, K A Quane, M Lehane, J J Heffron, T V McCarthy
• CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test. (1 April, 1997)

  C Castellani, A Bonizzato, G Mastella
• Prenatal detection of fetal aneuploidies using transcervical cell samples. (1 April, 1997)

  J Sherlock, A Halder, B Tutschek, J Delhanty, C Rodeck, M Adinolfi
• Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. (1 April, 1997)

  H Fryssira, R Palmer, K A Hallidie-Smith, J Taylor, D Donnai, W Reardon
• Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. (1 April, 1997)

  H C Duba, M Erdel, J Löffler, L Bereuther, H Fischer, B Utermann, G Utermann
• Molecular-cytogenetic detection of a deletion of 1p36.3. (1 April, 1997)

  F Giraudeau, D Aubert, I Young, S Horsley, S Knight, L Kearney, G Vergnaud, J Flint
• Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. (1 April, 1997)

  K Devriendt, G Matthijs, S Claes, E Legius, W Proesmans, J J Cassiman, J P Fryns
• The Y specific growth gene(s): how does it promote stature? (1 April, 1997)

  T Ogata, N Matsuo
• Alport's syndrome. (1 April, 1997)

  F Flinter
• Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p. (1 April, 1997)

  T Ogata, K Muroya, N Matsuo, J Hata, Y Fukushima, Y Suzuki
• A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. (1 April, 1997)

  T Sasaki, H Tonoki, H Soejima, N Niikawa
• Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases. (1 April, 1997)

  S Spranger, S Rudnik-Schöneborn, M Spranger, M Schächtele, K Zerres, B Wirth
• Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. (1 April, 1997)

  P R Hoban, R L Cowen, E L Mitchell, D G Evans, M Kelly, P J Howard, J Heighway
• Report of the Fifth European Meeting on Psychosocial Aspects of Genetics. (1 April, 1997)

  C Barnes, T Marteau, G Evers-Kiebooms
• FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. (1 April, 1997)

  D Z Loesch
• Raising the sensitivity of fetal RhD typing and sex determination from maternal blood. (1 April, 1997)

  M Hengstschläger, G Hölzl, B Ulm, G Bernaschek