Table of contents

Research Article

• A gene map of congenital malformations. (1 July, 1994)

  A O Wilkie, J S Amberger, V A McKusick
• Paternal transmission of congenital myotonic dystrophy. (1 July, 1994)

  J Bergoffen, J Kant, J Sladky, D McDonald-McGinn, E H Zackai, K H Fischbeck
• Lethal congenital contracture syndrome: further delineation and genetic aspects. (1 July, 1994)

  K Vuopala, R Herva
• A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients. (1 July, 1994)

  A L Collins, A E Cockwell, P A Jacobs, N R Dennis
• "Compensatory" uniparental disomy of chromosome 21 in two cases. (1 July, 1994)

  O Bartsch, M B Petersen, I Stuhlmann, G Mau, M Frantzen, E Schwinger, S E Antonarakis, M Mikkelsen
• Mutation analysis in 600 French cystic fibrosis patients. (1 July, 1994)

  F Chevalier-Porst, A M Bonardot, R Gilly, J P Chazalette, M Mathieu, D Bozon
• Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs. (1 July, 1994)

  Z H Miedzybrodzka, Z Yin, K F Kelly, N E Haites
• Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. (1 July, 1994)

  A Iolascon, T Parrella, S Perrotta, O Guardamagna, P M Coates, M Sartore, S Surrey, P Fortina
• International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. (1 July, 1994)
• Beckwith-Wiedemann syndrome. (1 July, 1994)

  M Elliott, E R Maher
• Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. (1 July, 1994)

  C G Woods, J G Rogers, V Mayne
• Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. (1 July, 1994)

  K H Orstavik, N McFadden, J Hagelsteen, E Ormerod, C B van der Hagen
• Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. (1 July, 1994)

  D Meschede, U G Froster, M Bergmann, E Nieschlag
• A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA). (1 July, 1994)

  K Shibuta, M Abe, T Suzuki
• Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. (1 July, 1994)

  A A Bergen, P Kestelyn, M Leys, F Meire