May Tassabehji

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. ncbi request reprint GTF2IRD1 in craniofacial development of humans and mice
    May Tassabehji
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
    Science 310:1184-7. 2005
  2. pmc Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome
    Timothy A Hinsley
    Academic Department of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester, M13 0JH, UK
    Protein Sci 13:2588-99. 2004
  3. ncbi request reprint Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome
    Hannah J Tipney
    University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 12:551-60. 2004
  4. doi request reprint Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
    May Tassabehji
    Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary s Hospital, Manchester, United Kingdom
    Hum Mutat 29:1017-27. 2008
  5. doi request reprint Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
    William G Newman
    Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Am J Med Genet A 146:3034-7. 2008
  6. ncbi request reprint In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene
    Victoria Gray
    Psychology Department, Royal Holloway, University of London, UK
    Neuropsychologia 44:679-85. 2006
  7. ncbi request reprint Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development
    May Tassabehji
    Eur J Hum Genet 14:507-8. 2006
  8. ncbi request reprint Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6
    Kay Metcalfe
    Academic Unit of Medical Genetics and Regional Genetics Service, The University of Manchester, St Mary s Hospital, Manchester, UK
    Clin Dysmorphol 14:61-5. 2005
  9. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
  10. pmc Discriminating power of localized three-dimensional facial morphology
    Peter Hammond
    Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
    Am J Hum Genet 77:999-1010. 2005

Collaborators

Detail Information

Publications10

  1. ncbi request reprint GTF2IRD1 in craniofacial development of humans and mice
    May Tassabehji
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
    Science 310:1184-7. 2005
    ..We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders...
  2. pmc Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome
    Timothy A Hinsley
    Academic Department of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester, M13 0JH, UK
    Protein Sci 13:2588-99. 2004
    ..Such cross-reactivity between GTF2I and GTF2IRD2 short isoforms might have been the evolutionary driving force for the 7q11.23 chromosomal rearrangement not present in the syntenic region in mice...
  3. ncbi request reprint Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome
    Hannah J Tipney
    University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 12:551-60. 2004
    ..Deletion mapping studies using somatic cell hybrids show that some WBS patients are hemizygous for this gene, suggesting that it could play a role in the pathogenesis of the disorder...
  4. doi request reprint Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
    May Tassabehji
    Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary s Hospital, Manchester, United Kingdom
    Hum Mutat 29:1017-27. 2008
    ....
  5. doi request reprint Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
    William G Newman
    Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Am J Med Genet A 146:3034-7. 2008
    ..Importantly, our study demonstrates that GO is not allelic to wrinkly skin syndrome caused by mutations in ATP6V0A2...
  6. ncbi request reprint In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene
    Victoria Gray
    Psychology Department, Royal Holloway, University of London, UK
    Neuropsychologia 44:679-85. 2006
    ..We conclude that a deeper assessment of WS at the genetic level is required before the contribution of specific genes to phenotypic outcomes can be fully understood...
  7. ncbi request reprint Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development
    May Tassabehji
    Eur J Hum Genet 14:507-8. 2006
  8. ncbi request reprint Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6
    Kay Metcalfe
    Academic Unit of Medical Genetics and Regional Genetics Service, The University of Manchester, St Mary s Hospital, Manchester, UK
    Clin Dysmorphol 14:61-5. 2005
    ....
  9. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    ..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
  10. pmc Discriminating power of localized three-dimensional facial morphology
    Peter Hammond
    Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
    Am J Hum Genet 77:999-1010. 2005
    ....