Table of contents

Research Article

• Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects. (1 January, 1995)

  C M Kielty, S J Davies, J E Phillips, C J Jones, C A Shuttleworth, S J Charles
• The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. (1 January, 1995)

  L I al-Gazali, A H Dawodu, K Sabarinathan, M Varghese
• Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. (1 January, 1995)

  M R Passos-Bueno, A Cerqueira, M Vainzof, S K Marie, M Zatz
• Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. (1 January, 1995)

  M Warburg, M Bugge, K Brøndum-Nielsen
• Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. (1 January, 1995)

  E C Twist, L K Casaubon, M H Ruttledge, V S Rao, P M Macleod, J Radvany, Z Zhao, R N Rosenberg, L A Farrer, G A Rouleau
• Difference in constitutive heterochromatin behaviour between human amniocytes and lymphocytes detected by a sequential in situ exonuclease III digestion-random primer extension procedure. (1 January, 1995)

  J L Fernández, A Campos, C López-Fernández, J Gosálvez, V Goyanes
• Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. (1 January, 1995)

  K Vuopala, P Mäkelä-Bengs, A Suomalainen, R Herva, J Leisti, L Peltonen
• Cartilage-hair hypoplasia. (1 January, 1995)

  O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila
• Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. (1 January, 1995)

  R H Boerman, R A Ophoff, T P Links, R van Eijk, L A Sandkuijl, A Elbaz, J E Vale-Santos, A R Wintzen, J C van Deutekom, D E Isles
• Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. (1 January, 1995)

  L Florentin, A Mavrou, K Kekou, C Metaxotou
• A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. (1 January, 1995)

  F A Hol, B C Hamel, M P Geurds, R A Mullaart, F G Barr, R A Macina, E C Mariman
• Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity. (1 January, 1995)

  D St Clair, J Bolt, S Morris, D Doyle
• Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. (1 January, 1995)

  G W Smith, C A Graham, J Nevin, N C Nevin
• A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (1 January, 1995)

  W el-Rifai, J Leisti, M Kähkönen, A Pietarinen, M R Altherr, S Knuutila
• Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. (1 January, 1995)

  D Horn, F Majewski, B Hildebrandt, H Körner
• An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). (1 January, 1995)

  A Giannotti, M C Digilio, R Mingarelli, B Dallapiccola
• A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia. (1 January, 1995)

  Y Ohashi, S Tsuchiya, T Konno
• Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families. (1 January, 1995)

  J D Stein, J T Hecht, S H Blanton
• Further report of a patient with humeroradioulnar synostosis and hydronephrosis. (1 January, 1995)

  R Boy, D Horovitz, F R Vargas, J G Barbosa Neto, J C Llerena Júnior, J C Almeida