Simon T Holden

Summary

Affiliation: Guy's and St Thomas' NHS Foundation Trust
Country: UK

Publications

  1. pmc Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
    S T Holden
    Department of Clinical Genetics, 7th Floor New Guy s House, Guy s Hospital, St Thomas Street, London SE1 9RT, UK
    J Med Genet 43:750-4. 2006
  2. doi request reprint A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome
    Simon T Holden
    Department of Clinical Genetics, Guy s Hospital, London, UK
    Am J Med Genet A 152:1735-40. 2010
  3. doi request reprint X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations
    Joanna McCauley
    Molecular Genetics Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Am J Med Genet A 155:2370-80. 2011
  4. pmc Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
    J J Cox
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, UK
    J Med Genet 40:169-74. 2003
  5. pmc Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
    C Bovie
    J Med Genet 40:682-4. 2003

Collaborators

  • N Simon Thomas
  • Ruth McGowan
  • F Lucy Raymond
  • Joanna McCauley
  • J J Cox
  • C Bovie
  • Sulekha Rajagopalan
  • Stephen Abbs
  • Kate Gibson
  • Jeremy Robertson
  • Fiona Vaz
  • Navta Masand
  • Alasdair Hunter
  • Jacques L Michaud
  • J I Burbridge
  • A Schroer
  • S Dee
  • E Smith
  • D Trump

Detail Information

Publications5

  1. pmc Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
    S T Holden
    Department of Clinical Genetics, 7th Floor New Guy s House, Guy s Hospital, St Thomas Street, London SE1 9RT, UK
    J Med Genet 43:750-4. 2006
    ..Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known...
  2. doi request reprint A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome
    Simon T Holden
    Department of Clinical Genetics, Guy s Hospital, London, UK
    Am J Med Genet A 152:1735-40. 2010
    ..These findings suggest that overexpression of genes from proximal Xp is likely to have contributed to her clinical phenotype...
  3. doi request reprint X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations
    Joanna McCauley
    Molecular Genetics Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Am J Med Genet A 155:2370-80. 2011
    ..These data show that loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis...
  4. pmc Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
    J J Cox
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, UK
    J Med Genet 40:169-74. 2003
    ..This patient therefore provides further evidence for the instability of this genomic region...
  5. pmc Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
    C Bovie
    J Med Genet 40:682-4. 2003