E Naito

Summary

Affiliation: Vrije Universiteit Brussel
Country: Belgium

Publications

  1. ncbi request reprint Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens
    W Lissens
    Center for Medical Genetics, University Hospital of the Dutch speaking Brussels Free University, Belgium
    Mol Hum Reprod 5:10-3. 1999
  2. ncbi request reprint Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene
    W Lissens
    Department of Paediatric Neurology, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
    Eur J Pediatr 158:853-7. 1999
  3. ncbi request reprint Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
    W Lissens
    Center for Medical Genetics, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Mutat 15:209-19. 2000

Collaborators

  • P G Barth
  • W Lissens
  • I Liebaers
  • S Seneca
  • L De Meirleir
  • D S Kerr
  • G K Brown
  • B H Robinson
  • I D Wexler
  • A Seyda
  • Y Kuroda
  • R M Brown
  • M Ito
  • M S Patel
  • F A Wijburg
  • P Vreken
  • K Z Mahmoud
  • E El-Gindi
  • A Abdel-Sattar
  • R J Wanders
  • A Van Steirteghem
  • W Ruitenbeek

Detail Information

Publications3

  1. ncbi request reprint Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens
    W Lissens
    Center for Medical Genetics, University Hospital of the Dutch speaking Brussels Free University, Belgium
    Mol Hum Reprod 5:10-3. 1999
    ..However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. It is as yet not clear whether this change is involved in CBAVD in this male...
  2. ncbi request reprint Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene
    W Lissens
    Department of Paediatric Neurology, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
    Eur J Pediatr 158:853-7. 1999
    ..They both carried a normal and a mutated E1alpha gene and X-inactivation studies showed skewed patterns...
  3. ncbi request reprint Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
    W Lissens
    Center for Medical Genetics, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Mutat 15:209-19. 2000
    ..The mutation was never present in the somatic cells of the father; in 63 mothers studied, 16 were carriers (25%). In four families, the origin of the new mutation was determined to be twice paternal and twice maternal...