Stephanie Halford

Summary

Publications

  1. ncbi request reprint Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
    Samantha Johnson
    Institute of Ophthalmology, University College London, London, UK
    Genomics 81:304-14. 2003
  2. ncbi request reprint Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:377-82. 2002
  3. ncbi request reprint Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Am J Ophthalmol 139:192-3. 2005
  4. pmc A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families
    M F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK
    Br J Ophthalmol 87:839-42. 2003
  5. ncbi request reprint A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population
    Mohamed Farouk El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Ophthalmic Res 37:310-7. 2005
  6. ncbi request reprint Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
    Suzanne L Inglis-Broadgate
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Gene 356:19-31. 2005
  7. ncbi request reprint Characterization of genetically modified human retinal pigment epithelial cells developed for in vitro and transplantation studies
    Naheed Kanuga
    Division of Cell Biology, Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:546-55. 2002
  8. ncbi request reprint Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13
    Stephanie Halford
    Exp Eye Res 75:619-23. 2002
  9. ncbi request reprint Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
    Brenda L Powell
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    J Clin Endocrinol Metab 90:2988-93. 2005
  10. ncbi request reprint Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Anna L Gloyn
    Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
    Diabetes 52:568-72. 2003

Collaborators

  • David M Hunt
  • Mohamed F El-Ashry
  • Samantha Johnson
  • Tony Moore
  • Subathra Poopalasundaram
  • A L Gloyn
  • K R Owen
  • Eleftheria Zeggini
  • A T Hattersley
  • A J Hardcastle
  • Brenda L Powell
  • Michelle Gaasenbeek
  • Suzanne L Inglis-Broadgate
  • Marjo Riitta Jarvelin
  • Hannu Martikainen
  • Lema Haddad
  • Gerard S Conway
  • Neda Gharani
  • Anneli Pouta
  • Amanda Bennett
  • Steve Franks
  • Saara Taponen
  • Mark I McCarthy
  • Christopher J Groves
  • Micaela J Goh
  • Anna Liisa Hartikainen
  • Aimo Ruokonen
  • Ulla Sovio
  • Karen Rush
  • Naheed Kanuga
  • Catherine Roberts
  • Michael E Cheetham
  • Ruby Banerjee
  • Brian J Clark
  • Louise Ocaka
  • J Paul Chapple
  • Joshua M Brickman
  • Helen L Winton
  • Pierre Olivier Couraud
  • Raymond D Lund
  • Alisoun Carey
  • Peter Adamson
  • David Keegan
  • Laurence Beauchéne
  • Anne Zerbib
  • Pete Coffey
  • Anthony Wynshaw-Boris
  • John Greenwood
  • Hannah Farmer
  • Wendy Kimber
  • Helen F Sutherland
  • Peter J Scambler
  • Ahmet Koman

Detail Information

Publications12

  1. ncbi request reprint Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
    Samantha Johnson
    Institute of Ophthalmology, University College London, London, UK
    Genomics 81:304-14. 2003
    ..The RIM1 gene is composed of at least 35 exons, spans 577 kb of genomic DNA, and encodes a protein of up to 1693 residues. The transcript shows extensive alternative splicing involving exons 17, 21-26 and 28-30...
  2. ncbi request reprint Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:377-82. 2002
    ..Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD...
  3. ncbi request reprint Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
    Mohamed F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Am J Ophthalmol 139:192-3. 2005
    ..To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene...
  4. pmc A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families
    M F El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK
    Br J Ophthalmol 87:839-42. 2003
    ..To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD)...
  5. ncbi request reprint A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population
    Mohamed Farouk El-Ashry
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Ophthalmic Res 37:310-7. 2005
    ..To identify the underlying mutations in our British families and sporadic patients with different types of corneal dystrophies (CDs) and to establish a phenotype-genotype correlation...
  6. ncbi request reprint Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
    Suzanne L Inglis-Broadgate
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Gene 356:19-31. 2005
    ..These are regions of synteny with the corresponding human gene localization (4q21 and 20p13). Transient transfection experiments with epitope tagged proteins have also demonstrated that both are associated with the endoplasmic reticulum...
  7. ncbi request reprint Characterization of genetically modified human retinal pigment epithelial cells developed for in vitro and transplantation studies
    Naheed Kanuga
    Division of Cell Biology, Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:546-55. 2002
    ..To develop, by specific genetic modification, a differentiated human retinal pigment epithelial (RPE) cell line with an extended life span that can be used for investigating their function in vitro and for in vivo transplantation studies...
  8. ncbi request reprint Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13
    Stephanie Halford
    Exp Eye Res 75:619-23. 2002
  9. ncbi request reprint Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
    Brenda L Powell
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    J Clin Endocrinol Metab 90:2988-93. 2005
    ..Variation at the insulin gene VNTR (variable number tandem repeat) minisatellite has been reported to be associated with polycystic ovary syndrome (PCOS), but findings have been inconsistent and all studies have featured small sample sizes...
  10. ncbi request reprint Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Anna L Gloyn
    Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
    Diabetes 52:568-72. 2003
    ..000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles...
  11. pmc Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality
    Catherine Roberts
    Molecular Medicine Unit, Institute of Child Health, London WC1N 1EH, United Kingdom
    Mol Cell Biol 22:2318-28. 2002
    ..This phenotype could be partially rescued by a CD1 genetic background, although the homozygous mutation was always lethal by embryonic day 11, with death probably resulting from abnormal placentation and failure of cardiac morphogenesis...
  12. ncbi request reprint Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone
    Michelle Gaasenbeek
    Genomic Medicine, Faculty of Medicine, Reproductive and Developmental Biology, Imperial College, Hammersmith Campus, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 89:2408-13. 2004
    ..These studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies...