Table of contents

Research Article

• Genetic testing for cancer predisposition: need and demand. (1 March, 1995)

  D G Evans
• FRAXE and mental retardation. (1 March, 1995)

  J C Mulley, S Yu, D Z Loesch, D A Hay, A Donnelly, A K Gedeon, P Carbonell, I López, G Glover, I Gabarrón
• A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. (1 March, 1995)

  Q Wang, E Green, M Bobrow, C G Mathew
• Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (1 March, 1995)

  A O Wilkie, S P Yang, D Summers, M D Poole, W Reardon, R M Winter
• A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. (1 March, 1995)

  T Webb, D Clarke, C A Hardy, M W Kilpatrick, J Corbett, M Dahlitz
• Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. (1 March, 1995)

  C MacGeoch, G Turner, L G Bobrow, D M Barnes, D T Bishop, N K Spurr
• Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. (1 March, 1995)

  G Woods, G Black, G Norbury
• A gene for familial venous malformations maps to chromosome 9p in a second large kindred. (1 March, 1995)

  C J Gallione, K A Pasyk, L M Boon, F Lennon, D W Johnson, E A Helmbold, D S Markel, M Vikkula, J B Mulliken, M L Warman
• Absence of linkage between familial neural tube defects and PAX3 gene. (1 March, 1995)

  S Chatkupt, F A Hol, Y Y Shugart, M P Geurds, E S Stenroos, M R Koenigsberger, B C Hamel, W G Johnson, E C Mariman
• Further evidence for an intermittent pattern of neural tube closure in humans. (1 March, 1995)

  M J Seller
• Haplotype analysis in autosomal dominant polycystic kidney disease. (1 March, 1995)

  S E Pound, S Thomas, A Snarey, A M Macnicol, M L Watson, P M Pignatelli, A M Frischauf, P C Harris, A F Wright
• Menkes disease. (1 March, 1995)

  A Bankier
• Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. (1 March, 1995)

  G Novelli, F Capon, L Tamisari, E Grandi, C Angelini, P Guerrini, B Dallapiccola
• A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect. (1 March, 1995)

  P M Smooker, J Christodoulou, R R McInnes, R G Cotton
• Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. (1 March, 1995)

  C Y Gregory, K Evans, S S Bhattacharya
• Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. (1 March, 1995)

  S A Lynch, K A Ashcroft, S Zwolinski, C Clarke, J Burn
• Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. (1 March, 1995)

  C Cudrey, C Chevillard, D Le Paslier, A Vignal, E Passage, M Fontes
• Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. (1 March, 1995)

  J Eason, C M Hall, J Q Trounce
• Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (1 March, 1995)

  J N Macpherson, G Curtis, J A Crolla, N Dennis, B Migeon, P K Grewal, M C Hirst, K E Davies, P A Jacobs
• Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. (1 March, 1995)

  C Y Gregory, S Wijesuriya, K Evans, M Jay, A C Bird, S S Bhattacharya
• Familial schizencephaly: further delineation of a rare disorder. (1 March, 1995)

  F Haverkamp, K Zerres, B Ostertun, D Emons, M J Lentze
• Thalassaemia in Azerbaijan. (1 March, 1995)

  D Gaziev
• Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. (1 March, 1995)

  A Moncla, N Philip, J F Mattei