Table of contents

Research Article

• Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. (1 May, 1996)

  L Colleaux, M May, J Belougne, D Lepaslier, C Schwartz, M Fontes
• Mutation analysis in 24 French patients with glycogen storage disease type 1a. (1 May, 1996)

  F Chevalier-Porst, D Bozon, A M Bonardot, N Bruni, G Mithieux, M Mathieu, I Maire
• Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). (1 May, 1996)

  G Deidda, S Cacurri, N Piazzo, L Felicetti
• Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. (1 May, 1996)

  R Tupler, A Berardinelli, L Barbierato, R Frants, J E Hewitt, G Lanzi, P Maraschio, L Tiepolo
• Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. (1 May, 1996)

  H H Lee, H T Chao, H T Ng, K B Choo
• FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. (1 May, 1996)

  Z Wang, A K Taylor, J A Bridge
• First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). (1 May, 1996)

  J C Oosterwijk, J C Jansen, E M van Schothorst, A W Oosterhof, P Devilee, E Bakker, M W Zoeteweij, A G van der Mey
• A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family. (1 May, 1996)

  J J Grobbelaar, A Ziskind, G de Jong, C J Oosthuizen, M J Kotze
• Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. (1 May, 1996)

  D Mutton, E Alberman, E B Hook
• Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions. (1 May, 1996)

  K H Ramesh, R S Verma
• Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH. (1 May, 1996)

  E Blennow, E Tillberg
• Marfan syndrome. (1 May, 1996)

  J R Gray, S J Davies
• Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. (1 May, 1996)

  R Torra, L Alós, J Ramos, X Estivill
• Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. (1 May, 1996)

  A Oterino, F I Montón, V M Cabrera, F Pinto, A Gonzalez, N R Lavilla
• Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. (1 May, 1996)

  M C Digilio, B Marino, A Giannotti, B Dallapiccola
• Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. (1 May, 1996)

  P Nicolaides, R E Appleton, A Fryer
• A boy with developmental delay and a maternally inherited deletion in 15q11q13. (1 May, 1996)

  M King, C Hardy, B Asenbauer, M Kilpatrick, T Webb
• Mirror hands and feet: a further case of Laurin-Sandrow syndrome. (1 May, 1996)

  E Hatchwell, N Dennis
• A new case of fibrochondrogenesis from Spain. (1 May, 1996)

  M L Martínez-Frías, A García, J Cuevas, J I Rodríguez, M Urioste
• Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. (1 May, 1996)

  L E Bernard, D Chitayat, R Weksberg, M I Van Allen, S Langlois
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (1 May, 1996)

  F V Elmslie, S M Hutchings, V Spencer, A Curtis, T Covanis, R M Gardiner, M Rees
• Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3. (1 May, 1996)

  D H Llewellyn, G A Scobie, A J Urquhart, S D Whatley, A G Roberts, P R Harrison, G H Elder
• Different origins of mutations at the Machado-Joseph locus (MJD1) (1 May, 1996)

  P Iughetti, M Zatz, M R Bueno, S K Marie