Table of contents

Research Article

• The morbid anatomy of the human genome: chromosomal location of mutations causing disease. (1 January, 1993)

  V A McKusick, J S Amberger
• The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. (1 January, 1993)

  W G Cole, R K Hall, J G Rogers
• Holoprosencephaly: a family showing dominant inheritance and variable expression. (1 January, 1993)

  A L Collins, P W Lunt, C Garrett, N R Dennis
• Variability of expression in tuberous sclerosis. (1 January, 1993)

  H Northrup, J W Wheless, T K Bertin, R A Lewis
• Parental age, genetic mutation, and cerebral palsy. (1 January, 1993)

  N A Fletcher, J Foley
• Exclusion of familial dysautonomia from more than 60% of the genome. (1 January, 1993)

  A Blumenfeld, F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius, J L Haines, X O Breakefield
• Incontinentia pigmenti (Bloch-Sulzberger syndrome). (1 January, 1993)

  S J Landy, D Donnai
• The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility. (1 January, 1993)

  B A Neilan, D A Leigh, B L McDonald
• The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. (1 January, 1993)

  T I Farag, S A al-Awadi, M J Marafie, L Bastaki, S A al-Othman, F M Mohammed, I S AlSuliman, D S Murthy
• Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. (1 January, 1993)

  G Camera, G Ferraiolo, D Leo, A Spaziale, S Pozzolo
• Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant. (1 January, 1993)

  J W Dixon, T Costa, I E Teshima
• Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q. (1 January, 1993)

  G Valkova, M Stefanova
• Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome? (1 January, 1993)

  K Méhes
• Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. (1 January, 1993)

  C T Schrander-Stumpel, C J Höweler, A D Reekers, N M De Smet, J G Hall, J P Fryns
• Humeroradioulnar synostosis in a patient with lambdoid synostosis. (1 January, 1993)

  T J Edwards, E A Haan, I J Humphrey
• Waardenburg syndrome and myelomeningocele in a family. (1 January, 1993)

  S Chatkupt, S Chatkupt, W G Johnson
• Another example favouring the location of BPES at 3q2. (1 January, 1993)

  J C de Almeida, J C Llerena Júnior, J B Gonçalves Neto, M Jung, R R Martins
• A new approach to prenatal cystic fibrosis carrier screening. (1 January, 1993)

  Z Miedzybrodzka, N Haites, J Dean