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...
- 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...
- 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...
- 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....
- 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...
- 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