Table of contents

Research Article

• Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. (1 May, 1994)

  G Holmgren, P M Costa, C Andersson, K Asplund, L Steen, L Beckman, P O Nylander, A Teixeira, M J Saraiva, P P Costa
• A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. (1 May, 1994)

  C E Petersen, A G Scottolini, L R Cody, M Mandel, N Reimer, N V Bhagavan
• Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. (1 May, 1994)

  O K Tollersrud, O Nilssen, L Tranebjaerg, O Borud
• The impact of population based screening for carriers of cystic fibrosis. (1 May, 1994)

  H Bekker, G Denniss, M Modell, M Bobrow, T Marteau
• A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. (1 May, 1994)

  M Chillón, T Casals, J Giménez, V Nunes, X Estivill
• New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. (1 May, 1994)

  G Camera, G Stella, A Camera
• Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (1 May, 1994)

  Y Trottier, V Biancalana, J L Mandel
• Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation. (1 May, 1994)

  F A Brook, J P Estibeiro, A J Copp
• Molecular evidence for non-penetrance in Best's disease. (1 May, 1994)

  B H Weber, D Walker, B Müller
• Saethre-Chotzen syndrome. (1 May, 1994)

  W Reardon, R M Winter
• A case of paternally inherited congenital myotonic dystrophy. (1 May, 1994)

  M Nakagawa, H Yamada, I Higuchi, Y Kaminishi, T Miki, K Johnson, M Osame
• Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. (1 May, 1994)

  O Amaral, A M Fortuna, L Lacerda, R Pinto, M C Sa Miranda
• A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. (1 May, 1994)

  Q H Qazi, D Markouizos, C Rao, T Sheikh, E Beller, R Kula
• Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. (1 May, 1994)

  M L Martínez-Frías, M Alcaraz, P Espejo, M A Gómez, R García de León, L González Moro
• Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15). (1 May, 1994)

  E D'Alessandro, C Ligas, M L Lo Re, M P Marcanio, T Gentile, G Del Porto
• Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). (1 May, 1994)

  T Uemichi, M A Gertz, M D Benson
• Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient. (1 May, 1994)

  I M Thomas, R Sayee, L Shavanthi, H Sridevi
• Genetics in art. (1 May, 1994)

  A E Emery, M Emery
• Drug induced VATER association: is dibenzepin a possible cause? (1 May, 1994)

  P Merlob, N Naor
• Kyphomelic dysplasia. (1 May, 1994)

  M A O'Reilly, C M Hall
• Velocardiofacial syndrome and DiGeorge sequence. (1 May, 1994)

  R J Shprintzen
• Multiple origins of X chromosome tetrasomy. (1 May, 1994)

  W P Robinson, F Binkert, A A Schinzel, S Basaran, R Mikelsaar
• Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. (1 May, 1994)

  L E Mitchell
• Deletions of the entire APC gene are associated with sessile colonic adenomas. (1 May, 1994)

  S V Hodgson, N L Fagg, I C Talbot, M Wilkinson