Table of contents

Research Article

• Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. (1 December, 1994)

  P J Rosenfeld, V A McKusick, J S Amberger, T P Dryja
• Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. (1 December, 1994)

  M Bitner-Glindzicz, Y de Kok, D Summers, I Huber, F P Cremers, H H Ropers, W Reardon, M E Pembrey, S Malcolm
• X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). (1 December, 1994)

  N Dahl, F Samson, N S Thomas, L J Hu, W Gong, G Herman, J Laporte, P Kioschis, A Poustka, J L Mandel
• Genetic heterogeneity in hereditary haemorrhagic telangiectasia. (1 December, 1994)

  M E Porteous, A Curtis, O Williams, D Marchuk, S S Bhattacharya, J Burn
• Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. (1 December, 1994)

  K A McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold, D S Markel, C E Jackson, A E Guttmacher, M A Pericak-Vance, D A Marchuk
• Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. (1 December, 1994)

  P Heutink, T Haitjema, G J Breedveld, B Janssen, L A Sandkuijl, C J Bontekoe, C J Westerman, B A Oostra
• Automated analysis of multiplex microsatellites. (1 December, 1994)

  G R Taylor, J S Noble, R F Mueller
• Genetic epidemiology of early onset breast cancer. (1 December, 1994)

  D Eccles, A Marlow, G Royle, A Collins, N E Morton
• The impact of genetic counselling on females in fragile X families. (1 December, 1994)

  G Curtis, N Dennis, J MacPherson
• Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. (1 December, 1994)

  M A Hannan, D Sigut, M Waghray, G G Gascon
• Syndactyly, ectodermal dysplasia, and cleft lip/palate. (1 December, 1994)

  J Zlotogora
• Anophthalmia with cleft palate and micrognathia: a new syndrome? (1 December, 1994)

  S R Phadke, A K Sharma, S S Agarwal
• Two fetuses with Fryns syndrome without diaphragmatic defects. (1 December, 1994)

  K K Wilgenbus, R Engers, G Crombach, F Majewski
• Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. (1 December, 1994)

  M Gomez-Lira, A Sangalli, P F Pignatti, M C Digilio, A Giannotti, E Carnevale, M Mottes
• Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus. (1 December, 1994)

  M Leäo, M L da Silva
• Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. (1 December, 1994)

  A A Bergen, J B ten Brink, L M Bleeker-Wagemakers, M J van Schooneveld
• Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. (1 December, 1994)

  M Bueno, G Oliván, A Jiménez, J M Garagorri, A Sarría, A L Bueno, M Bueno, F J Ramos
• Assessment of Yqh translocations. (1 December, 1994)

  J L Fernández, S Pereira, A Campos, V Goyanes
• Meiotic drive at the myotonic dystrophy locus. (1 December, 1994)

  M Gennarelli, B Dallapiccola, M Baiget, L Martorell, G Novelli
• Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390) (1 December, 1994)

  S Ohdo, T Sonoda, K Ohba