Genomes and Genes
Affiliation: University of Manchester
- GTF2IRD1 in craniofacial development of humans and miceMay 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...
- Comparison of TFII-I gene family members deleted in Williams-Beuren syndromeTimothy 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...
- Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndromeHannah 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...
- Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay 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....
- Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromeMay 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....
- Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosisMay Tassabehji
Academic Unit of Medical Genetics, The University of Manchester, St Mary s Hospital, Manchester, United Kingdom
Methods Mol Med 126:129-56. 2006....
- Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24William 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...
- Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateAna Beleza-Meireles
Serviço de Genética, Departamento Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal Center for Human Genetics, Cliniques Universitaires St Luc, Universite Catholique de Louvain, Brussels, Belgium Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK
J Med Genet 51:635-45. 2014..We also comment on some important aspects of recurrence risk counselling to aid clinical management...
- Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
Am J Hum Genet 89:675-81. 2011..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
- Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language developmentMay Tassabehji
Eur J Hum Genet 14:507-8. 2006
- Discriminating power of localized three-dimensional facial morphologyPeter Hammond
Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
Am J Hum Genet 77:999-1010. 2005....
- Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian 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...
- In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 geneVictoria 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...