Table of contents

Research Article

• Direct marketing of cystic fibrosis carrier screening: commercial push or population need? (1 April, 1995)

  P S Harper
• Leukaemia and Sellafield: is there a heritable link? (1 April, 1995)

  E J Tawn
• A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. (1 April, 1995)

  L Tranebjaerg, C Schwartz, H Eriksen, S Andreasson, V Ponjavic, A Dahl, R E Stevenson, M May, F Arena, D Barker
• Alagille syndrome: family studies. (1 April, 1995)

  F V Elmslie, A J Vivian, H Gardiner, C Hall, A P Mowat, R M Winter
• Association study with two markers of a human homeogene in infantile autism. (1 April, 1995)

  E Petit, J Hérault, J Martineau, A Perrot, C Barthélémy, L Hameury, D Sauvage, G Lelord, J P Müh
• Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. (1 April, 1995)

  D T Pilz, A Dalton, A Long, T Jaspan, E L Maltby, O W Quarrell
• A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. (1 April, 1995)

  T Uemichi, M A Gertz, M D Benson
• Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay. (1 April, 1995)

  Z Miedzybrodzka, J Semper, P Shackley, M Abdalla, C Donaldson
• Perinatal lethal osteogenesis imperfecta. (1 April, 1995)

  W G Cole, R Dalgleish
• Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. (1 April, 1995)

  C T Jones, R J Swingler, S A Simpson, D J Brock
• De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. (1 April, 1995)

  J H Hersh, F F Yen, S C Peiper, M J Barch, O A Yacoub, D H Voss, J L Roberts
• Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families. (1 April, 1995)

  P P Deutz-Terlouw, M Losekoot, R Olmer, W C Pieneman, S de Vries-v d Weerd, E Briët, E Bakker
• Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome. (1 April, 1995)

  C G Woods, M Leversha, J G Rogers
• Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. (1 April, 1995)

  V P Prasher, E Roberts, A Norman, A C Butler, V H Krishnan, D J McMullan
• Congenital knee dislocation in a 49,XXXXY boy. (1 April, 1995)

  R H Sijmons, A J van Essen, J D Visser, M Iprenburg, G F Nelck, M L Vos-Bender, B de Jong
• Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. (1 April, 1995)

  T Attié, M Till, A Pelet, P Edery, J P Bonnet, A Munnich, S Lyonnet
• MURCS in a male? (1 April, 1995)

  D G Wellesley, S F Slaney
• Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. (1 April, 1995)

  E Legius, R Wu, M Eyssen, P Marynen, J P Fryns, J J Cassiman
• International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994. (1 April, 1995)

  M Worwood, P Gasparini, C Camaschella
• Huntington's disease in Saudi Arabia. (1 April, 1995)

  S Bohlega, D McLean, S Omer, Z al Kawi, R A Roos, M Losekoot, E Bakker
• Different muscle specific promoter characteristics in two sibs with Duchenne muscular dystrophy. (1 April, 1995)

  T Kondoh, S Fujishita, N Shibuya, T Matsumoto
• Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family. (1 April, 1995)

  J P Fryns
• Grebe syndrome: a very severely affected case. (1 April, 1995)

  M L Kulkarni, B Kumar, A Nasser, B M Kulkarni