Table of contents

Research Article

• A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. (1 January, 1998)

  C F Inglehearn, E E Tarttelin, C Plant, R E Peacock, M al-Maghtheh, E Vithana, A C Bird, S S Bhattacharya
• Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome. (1 January, 1998)

  A C Halkas, M C Gaillard, P D Thomson, S L Green, H Ludewick, U Kala
• An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. (1 January, 1998)

  F Lalloo, S Cochrane, B Bulman, J Varley, R Elles, A Howell, D G Evans
• Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. (1 January, 1998)

  K D MacDermot, A K Saggar-Malik, D L Economides, S Jeffery
• An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. (1 January, 1998)

  S F Slaney, I J Chalmers, N A Affara, L S Chitty
• A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. (1 January, 1998)

  K Yamamoto, S Ikeda, N Hanyu, S Takeda, N Yanagisawa
• Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. (1 January, 1998)

  M A Sabry, M Zaki, S J Abul Hassan, D G Ramadan, M A Abdel Rasool, S A al Awadi, Q al Saleh
• Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications. (1 January, 1998)

  D K Griffin, D Sanoudou, E Adamski, C McGiffert, P O'Brien, J Wienberg, M A Ferguson-Smith
• Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. (1 January, 1998)

  S Olschwang, D Markie, S Seal, K Neale, R Phillips, S Cottrell, I Ellis, S Hodgson, P Zauber, A Spigelman, T Iwama, S Loff, C McKeown, C Marchese, J Sampson, S Davies, I Talbot, J Wyke, G Thomas, W Bodmer, A Hemminki, E Avizienyte, A de la Chapelle, L Aaltonen, I Tomlinson
• Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (1 January, 1998)

  H Kikuchi, A Takata, Y Akasaka, R Fukuzawa, H Yoneyama, Y Kurosawa, M Honda, Y Kamiyama, J Hata
• Atelosteogenesis type 2. (1 January, 1998)

  R Newbury-Ecob
• Costello syndrome in two Brazilian children. (1 January, 1998)

  R Pratesi, M Santos, I Ferrari
• Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (1 January, 1998)

  H B Vassal, M Malone, A J Petros, R M Winter
• Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. (1 January, 1998)

  A Berger, N Haschke, C Kohlhauser, G Amman, U Unterberger, M Weninger
• Kyphomelic dysplasia in two sib fetuses. (1 January, 1998)

  C P Chen, S R Chern, S L Shih, C Y Chuang, F Y Huang
• Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. (1 January, 1998)

  K Devriendt, L Standaert, C Van Hole, H Devlieger, J P Fryns
• Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. (1 January, 1998)

  J Davies, A Jaffé, A Bush
• Partial trisomy 1(q42-->qter): a new case with a mild phenotype. (1 January, 1998)

  D Concolino, R Cinti, L Ferraro, M T Moricca, P Strisciuglio
• Intrachromosomal triplication of distal 7p. (1 January, 1998)

  H Rivera, L Bobadilla, A Rolon, J Kunz, J A Crolla
• Cystic fibrosis and mucins. (1 January, 1998)

  A Harris, C Reid
• Chinese geneticists approach ethics. (1 January, 1998)

  X Mao
• Familial gonadal tumours. (1 January, 1998)

  M Tischkowitz, D Pilz, P S Harper
• Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation. (1 January, 1998)

  M H Liang, L J Wong, D Klein, B Shapiro, C M Bowman, E Hsu, L J Wong
• Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. (1 January, 1998)

  F Mansergh, T Meitinger, G Rodolph, P Humphries, G J Farrar
• Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? (1 January, 1998)

  K Okamoto, I M Morison, A E Reeve, N Tommerup, H R Wiedemann, U Friedrich