Table of contents

Research Article

• Molecular genetics of neurofibromatosis type 1 (NF1). (1 January, 1996)

  M H Shen, P S Harper, M Upadhyaya
• Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree. (1 January, 1996)

  J M Healy, K A Quane, K E Keating, M Lehane, J J Heffron, T V McCarthy
• Variation of phenotype in patients with glucocorticoid remediable aldosteronism. (1 January, 1996)

  L J Gates, A A MacConnachie, R P Lifton, N E Haites, N Benjamin
• Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. (1 January, 1996)

  E Bakker, M J Van der Wielen, E Voorhoeve, P F Ippel, G W Padberg, R R Frants, C Wijmenga
• Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (1 January, 1996)

  J Schleutker, P Sistonen, P Aula
• Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans. (1 January, 1996)

  E Treacy, C Polychronakos, M Vekemans, P Eydoux, S Blaichman, H Scarpelli, M Ross, Y Xu, V M Der Kaloustian
• Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. (1 January, 1996)

  R Vrtel, S Verhoef, K Bouman, M M Maheshwar, M Nellist, A J van Essen, P L Bakker, C J Hermans, M T Bink-Boelkens, R M van Elburg, M Hoff, D Lindhout, J Sampson, D J Halley, A M van den Ouweland
• Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). (1 January, 1996)

  X X Gu, R Decorte, P Marynen, J P Fryns, J J Cassiman, P Raeymaekers
• The representation of ethnic minorities at genetic clinics in Birmingham. (1 January, 1996)

  A Roberts, R Cullen, S Bundey
• X linked hydrocephalus and MASA syndrome. (1 January, 1996)

  S Kenwrick, M Jouet, D Donnai
• FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). (1 January, 1996)

  J A Crolla, I Cross, N Atkey, M Wright, C A Oley
• Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. (1 January, 1996)

  H M Kingston, D H Ledbetter, P I Tomlin, K L Gaunt
• Clinical features of cystic fibrosis patients with rare genotypes. (1 January, 1996)

  G Castaldo, E Rippa, V Raia, D Salvatore, C Massa, G de Ritis, F Salvatore
• Evidence for a fourth locus in Usher syndrome type I. (1 January, 1996)

  S Gerber, D Larget-Piet, J M Rozet, D Bonneau, M Mathieu, V Der Kaloustian, A Munnich, J Kaplan
• Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. (1 January, 1996)

  A Kuwano, F Takakubo, Y Morimoto, E Uyama, M Uchino, M Ando, T Yasuda, A Terao, T Hayama, R Kobayashi, I Kondo
• Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (1 January, 1996)

  J M McGaughran, L Gaunt, J Dore, F Petrij, H G Dauwerse, D Donnai
• Detection of a familial cryptic translocation by fluorescent in situ hybridisation. (1 January, 1996)

  D P Smith, M Floyd, B Say
• Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome. (1 January, 1996)

  J L Fernández, D Valverde, J Gosálvez, C Pineiro, S Pereira, V Goyanes
• Familial predisposition to both male and female germ cell tumours? (1 January, 1996)

  R A Huddart, C Thompson, R Houlston, R A Huddart, E J Nicholls, A Horwich