K
Kay E. Davies
Researcher at University of Oxford
Publications - 580
Citations - 40236
Kay E. Davies is an academic researcher from University of Oxford. The author has contributed to research in topics: Duchenne muscular dystrophy & Dystrophin. The author has an hindex of 100, co-authored 573 publications receiving 38462 citations. Previous affiliations of Kay E. Davies include Case Western Reserve University & Technische Universität München.
Papers
More filters
Journal ArticleDOI
Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).
Peter S. N. Rowe,J. Goulding,Andrew P. Read,Hans Lehrach,Fiona Francis,André Hanauer,C. Oudet,Valérie Biancalana,S. W. Kooh,Kay E. Davies,J.L.H. O'Riordan +10 more
TL;DR: Combining the genetic and physical data, it is able to propose the following gene marker order: Xptel-DXS43- DXS197-DXM163yh2, DXS999-DX s443-DXs443-[(DXS365-AFM163Yh2), HYP]-DXS274-DX S41-Xcen.
Book
Human genetic disease analysis: a practical approach
TL;DR: Part 1 Foetal DNA analysis and practical considerations - chromosome and nuclei preparation, pre-hybridization procedures, DNA resources for use as probes, probe labelling, hybridization, signal detection, chromosome banding, visualization of signal, trouble-shooting applications.
Journal ArticleDOI
Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit.
TL;DR: The differential expression of Brunol3 has been confirmed with real-time RT-PCR in spinal cord and muscle of three different models of spinal muscular atrophy and it is shown that this protein co-localise with survival motor neuron in the nuclei of neuronal cells and to co-immunoprecipitate with Smn in mouse brain.
Journal ArticleDOI
The structure of nucleolar chromatin in Physarum polycephalum
TL;DR: It is concluded that nucleolar chromatin, at least 25 per cent of which is maximally transcriptionally active in G2, has a nucleosome-like structure.
Journal ArticleDOI
Maternal Mosaicism for a Second Mutational Event in a Type I Spinal Muscular Atrophy Family
TL;DR: A type I SMA family is presented in which a mutant SMA chromosome has undergone a second mutation event, and the occurrence of three affected siblings harboring this same mutation in one generation of this family indicates the existence of maternal germ-line mosaicism for cells carrying the second mutation.