Table of contents

Research Article

• Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (1 June, 1997)

  S Kang, J Allen, J M Graham, T Grebe, C Clericuzio, N Patronas, F Ondrey, E Green, A Schäffer, M Abbott, L G Biesecker
• The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). (1 June, 1997)

  R Morell, T B Friedman, J H Asher, L G Robbins
• Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. (1 June, 1997)

  A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, J P Fryns
• The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. (1 June, 1997)

  N E Hartley, D Scotcher, H Harris, P Williamson, A Wallace, D Craufurd, R Harris
• Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. (1 June, 1997)

  R E Stevenson, B Häne, J F Arena, M May, L Lawrence, H A Lubs, C E Schwartz
• Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (1 June, 1997)

  A Carrié, F Piccolo, F Leturcq, C de Toma, K Azibi, C Beldjord, J M Vallat, L Merlini, T Voit, C Sewry, J A Urtizberea, N Romero, F M Tomé, M Fardeau, Y Sunada, K P Campbell, J C Kaplan, M Jeanpierre
• Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. (1 June, 1997)

  M Upadhyaya, J Maynard, M T Rogers, P W Lunt, P Jardine, D Ravine, P S Harper
• Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (1 June, 1997)

  S Lindsay, M Ireland, O O'Brien, J Clayton-Smith, J A Hurst, J Mann, T Cole, J Sampson, S Slaney, D Schlessinger, J Burn, G Pilia
• Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. (1 June, 1997)

  R A Brooimans, A J van den Berg, G T Rijkers, L A Sanders, J K van Amstel, M G Tilanus, M J Grubben, B J Zegers
• Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. (1 June, 1997)

  C von Schnakenburg, G Rumsby
• Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. (1 June, 1997)

  M B Coulter-Mackie, L Gagnier, M J Beis, D A Applegarth, D E Cole, K Gordon, M D Ludman
• Pure hereditary spastic paraplegia. (1 June, 1997)

  E Reid
• Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location. (1 June, 1997)

  B S Shastry, J F Hejtmancik, A Rodriguez, F Rodriguez, M L Tamayo
• SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease. (1 June, 1997)

  A Hanash, E Leguern, N Birouk, O Clermont, J Pouget, P Bouche, A Munnich, A Brice, J Melki
• Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC). (1 June, 1997)

  J A Rodriguez, R L Evans, S P Daiger, H Northrup
• Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15). (1 June, 1997)

  R Stallings, D Vaughn, K Hall, C Joyce, F Ryan, D Barton, M Geraghty
• Delineation of 14q32.3 deletion syndrome. (1 June, 1997)

  A P Ortigas, C K Stein, L L Thomson, J J Hoo
• Lethal femoral-facial syndrome: a case with unusual manifestations. (1 June, 1997)

  Y Gillerot, C Fourneau, T Willems, L Van Maldergem
• A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. (1 June, 1997)

  M B Delatycki, M A Cleary, A Bankier, P N McDougall, J S Ahluwalia, C W Chow, C M Cooke-Yarborough
• Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. (1 June, 1997)

  S Sohda, T Arinami, H Hamada, N Yamada, H Hamaguchi, T Kubo