Table of contents

Research Article

• Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. (1 October, 1998)

  M Votruba, A T Moore, S S Bhattacharya
• Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. (1 October, 1998)

  H G Yntema, B C Hamel, A P Smits, T van Roosmalen, B van den Helm, H Kremer, H H Ropers, D F Smeets, H van Bokhoven
• The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (1 October, 1998)

  H E Cunliffe, L A McNoe, T A Ward, K Devriendt, H G Brunner, M R Eccles
• Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. (1 October, 1998)

  V M Park, E K Pivnick
• Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting. (1 October, 1998)

  P Georgiades, C Chierakul, A C Ferguson-Smith
• A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. (1 October, 1998)

  J A Price, J T Wright, K Kula, D W Bowden, T C Hart
• Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. (1 October, 1998)

  N Matsumoto, D T Pilz, J A Fantes, K Kittikamron, D H Ledbetter
• A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. (1 October, 1998)

  A T Sumner, A R Mitchell, P M Ellis
• Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation. (1 October, 1998)

  S R Ghaffari, E Boyd, J M Connor, A M Jones, J L Tolmie
• Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. (1 October, 1998)

  S Verhoef, C T Schrander-Stumpel, V D Vuzevski, A Tempelaars, L A Jansen, G A Malfeyt, T L Ceelen, D Lindhout, D J Halley, A M van den Ouweland
• A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. (1 October, 1998)

  A J Richards, S Martin, A C Nicholls, J B Harrison, F M Pope, N P Burrows
• Fibroblast silver loading for the diagnosis of Menkes disease. (1 October, 1998)

  F W Verheijen, C E Beerens, A C Havelaar, W J Kleijer, G M Mancini
• Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. (1 October, 1998)

  N Hoshi, M Fujita, M Mikuni, T Fujino, K Okuyama, Y Handa, H Yamada, T Sagawa, H Hareyama, Y Nakahori, K Fujieda, J A Kant, K Nagashima, S Fujimoto
• Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. (1 October, 1998)

  A F Davies, K Imaizumi, G Mirza, R S Stephens, Y Kuroki, M Matsuno, J Ragoussis
• Discordant phenotypes and 45,X/46,X,idic(Y). (1 October, 1998)

  T E Kelly, J B Franko, A Rogol, W L Golden
• Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. (1 October, 1998)

  R G Hutcheon, A Mallik, M Shaham
• Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? (1 October, 1998)

  E F Percin, S Percin, H Egilmez, I Sezgin, F Ozbas, A N Akarsu
• Triophthalmia and facial clefting: a case report. (1 October, 1998)

  S M Tayel, M A Sabry, N A Kader, S Farah, S A Al-Awadi, T I Farag
• Molecular evidence that fragile X syndrome occurs in the South African black population. (1 October, 1998)

  A Goldman, T Jenkins, A Krause
• High frequency of the haemochromatosis C282Y mutation in Hungary could argue against a Celtic origin of the mutation. (1 October, 1998)

  A Tordai, H Andrikovics, L Kalmár, K Rajczy, M Pénzes, B Sarkadi, I Klein, A Váradi
• Hypoplastic left heart in cerebrocostomandibular syndrome. (1 October, 1998)

  E Kirk, L Ades
• Another dystonia. (1 October, 1998)

  M W Partington