Zobrazeno 1 - 10
of 62
pro vyhledávání: '"M. E. Pembrey"'
Publikováno v:
Health Technology Assessment, Vol 5, Iss 7 (2001)
Externí odkaz:
https://doaj.org/article/73659439e7bd4dea8c6a87ecd1e305e5
Autor:
Jessica L. Buxton, Jane J. Pappas, Moshe Szyf, Nada Borghol, Clyde Hertzman, Chris Power, Susan M. Ring, Wendy L. McArdle, Matthew Suderman, M. E. Pembrey
Publikováno v:
International Journal of Epidemiology. 44:1331-1340
Background Some cohort studies bank lymphoblastoid cell lines (LCLs) as a renewable source of participant DNA. However, although LCL DNA has proved valuable for genetic studies, its utility in epigenetic epidemiology research is unknown. Methods To a
Autor:
M. E. Pembrey
Publikováno v:
International Journal of Epidemiology. 44:1112-1116
The 1989 paper entitled ‘The inheritance of acquired epigenetic variations’ was one of a couple that Eva Jablonka and Marion Lamb published in the Journal of Theoretical Biology in the late 1980s to initiate their now famous collaboration which l
Autor:
Wendy L McArdle, Michael Hallett, Moshe Szyf, Nada Borghol, Ariane Racine, Clyde Hertzman, Matthew Suderman, Chris Power, M. E. Pembrey
Publikováno v:
International Journal of Epidemiology. 41:62-74
Background Disadvantaged socio-economic position (SEP) in childhood is associated with increased adult mortality and morbidity. We aimed to establish whether childhood SEP was associated with differential methylation of adult DNA. Methods Forty adult
Autor:
M. E. Pembrey, Chris Power, Jane J. Pappas, Nada Borghol, Clyde Hertzman, Matthew Suderman, Snehal M Pinto Pereira, Moshe Szyf
Publikováno v:
BMC Medical Genomics
Background Childhood abuse is associated with increased adult disease risk, suggesting that processes acting over the long-term, such as epigenetic regulation of gene activity, may be involved. DNA methylation is a critical mechanism in epigenetic re
Autor:
M. E. Pembrey, Bernhard Horsthemke, Karin Buiting, Sue Malcolm, Angela Barnicoat, Christina Lich
Publikováno v:
The American Journal of Human Genetics. 68(5):1290-1294
Imprinting in 15q11-q13 is controlled by a bipartite imprinting center (IC), which maps to the SNURF-SNRPN locus. Deletions of the exon 1 region impair the establishment or maintenance of the paternal imprint and can cause Prader-Willi syndrome (PWS)
Autor:
J Tyson, Michael Christiansen, Bjørn Aslaksen, Lars Allan Larsen, Meriel McEntagart, M. E. Pembrey, Sue Malcolm, Svein Jan Sørland, Jørn Bathen, Ole Lund, Margo L. Whiteford, Maria Bitner-Glindzicz, Lisbeth Tranebjærg
Publikováno v:
Human Genetics. 107:499-503
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. I
Autor:
M. E. Pembrey, S. Cottrell, T. Mckay, Robin M. Winter, H. L. Gilbert, S. Malcolm, C. T. J. J. Chan, Jessica L. Buxton, S. Ramsden
Publikováno v:
Journal of Medical Genetics. 34:651-655
We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a familial case of Angelman syndrome in which the two
Autor:
Tessa Webb, Jill Clayton-Smith, X.-J. Cheng, Sue Malcolm, C. T. J. J. Chan, Jessica L. Buxton, M. E. Pembrey
Publikováno v:
Journal of Medical Genetics. 30:895-902
Angelman syndrome (AS) results from a lack of maternal contribution from chromosome 15q11-13, arising from de novo deletion in most cases or rarely from uniparental disomy. These families are associated with a low recurrence risk. However, in a minor
Publikováno v:
Neuroradiology. 33:326-330
The association of X-linked mixed deafness with stapes gusher has been recognized for 20 years, and imaging studies by polytomography have shown dilatation of the lateral end of the internal auditory meatus (IAM) in some cases. We have made genetic l