Table of contents

Research Article

• The epidemiology of anotia and microtia. (1 October, 1996)

  J Harris, B Källén, E Robert
• Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. (1 October, 1996)

  F Durocher, P Tonin, D Shattuck-Eidens, M Skolnick, S A Narod, J Simard
• Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. (1 October, 1996)

  C Vazquez, G Antiñolo, T Casals, J Dapena, J Elorz, J L Seculi, J Sirvent, R Cabanas, C Soler, X Estivill
• X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. (1 October, 1996)

  J J MacKenzie, J Fitzpatrick, P Babyn, G B Ferrero, A Ballabio, G Billingsley, D E Bulman, P Strasberg, P N Ray, T Costa
• Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. (1 October, 1996)

  M van Bael, M R Natowicz, J Tomczak, E E Grebner, E M Prence
• Locus heterogeneity in progressive familial intrahepatic cholestasis. (1 October, 1996)

  S S Strautnieks, A F Kagalwalla, M S Tanner, R M Gardiner, R J Thompson
• Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. (1 October, 1996)

  C L James, P Rellos, M Ali, A F Heeley, T M Cox
• Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. (1 October, 1996)

  T Drumheller, B C McGillivray, D Behrner, P MacLeod, D E McFadden, J Roberson, C Venditti, K Chorney, M Chorney, D I Smith
• Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. (1 October, 1996)

  B Horsthemke, A Maat-Kievit, E Sleegers, A van den Ouweland, K Buiting, C Lich, P Mollevanger, G Beverstock, G Gillessen-Kaesbach, G Schwanitz
• Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. (1 October, 1996)

  K S Reddy, V Sulcova, B Siassi
• Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing. (1 October, 1996)

  K Lawson, S Wiggins, T Green, S Adam, M Bloch, M R Hayden
• Zellweger syndrome and associated phenotypes. (1 October, 1996)

  D R FitzPatrick
• Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. (1 October, 1996)

  A A Bergen, J B ten Brink, F Riemslag, E J Schuurman, F Meire, N Tijmes, P T de Jong
• Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. (1 October, 1996)

  M E Oude Luttikhuis, D K Williams, R C Trembath
• Currarino triad with a terminal deletion 7q35-->qter. (1 October, 1996)

  M Masuno, K Imaizumi, N Aida, Y Tanaka, K Sekido, Y Ohhama, T Nishi, Y Kuroki
• Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. (1 October, 1996)

  J W Hou, T R Wang
• Megalocornea-mental retardation syndrome: report of a new case. (1 October, 1996)

  I Barisić, I Ligutić, L Zergollern
• Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). (1 October, 1996)

  R Mingarelli, A Castriota Scanderbeg, B Dallapiccola
• Indirect inguinal hernia among Bedouins. (1 October, 1996)

  V K Grover, A M Nur, R Usha, T I Farag, M A Sabry