R
Robert Williamson
Researcher at Imperial College London
Publications - 292
Citations - 23430
Robert Williamson is an academic researcher from Imperial College London. The author has contributed to research in topics: Gene & Locus (genetics). The author has an hindex of 63, co-authored 279 publications receiving 22921 citations. Previous affiliations of Robert Williamson include University of London & St Mary's Hospital.
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Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
Alison Goate,Marie-Christine Chartier-Harlin,Michael Mullan,Jeremy P Brown,Fiona Crawford,Liana Fidani,L. Giuffra,Andrew Haynes,N.G. Irving,Louise James,R. Mant,Phillippa Newton,Karen Rooke,P Roques,Christopher Talbot,Margaret A. Pericak-Vance,Alien D. Roses,Robert Williamson,Martin N. Rossor,Michael John Owen,John Hardy +20 more
TL;DR: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene as discussed by the authors, which suggests that some cases of AD could be caused by mutations in the APP gene.
Segregation of a missense mutation in the amyloid precursor protein gene with familial alzheimers-disease
A. Goate,M-C. Chartier-Harlin,Michael Mullan,J Brown,Fiona Crawford,Liana Fidani,L Giuffra,A. Haynes,N Irving,L James,R Mant,P. J. Newton,K Rooke,P Roques,C. Conover Talbot,Pericak-Vance Margareta A,A. Roses,Robert Williamson,Martin N. Rossor,M. J. Owen,John Hardy +20 more
TL;DR: It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.
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Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis.
Natasha J. Caplen,Eric W.F.W. Alton,Peter G. Mddleton,Julia R. Dorin,Barbara J Stevenson,Xiang Gao,Stephen R. Durham,Peter K. Jeffery,Margaret E. Hodson,Charles Coutelle,Leaf Huang,David J. Porteous,Robert Williamson,Duncan M. Geddes +13 more
TL;DR: A partial restoration of the deficit between CF and non-CF subjects of 20% was seen for the response to low Cl− perfusion following CFTR cDNA administration and it is likely that transfection efficiency and the duration of expression will need to be increased for therapeutic benefit.
Journal ArticleDOI
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.
Cisca Wijmenga,Jane E. Hewitt,Lodewijk A. Sandkuijl,Lorraine N. Clark,Tracy J. Wright,Hans G. Dauwerse,Anne-Marie Gruter,Marten H. Hofker,Petra Moerer,Robert Williamson,Gert-Jan B. van Ommen,George W. Padberg,Rune R. Frants +12 more
TL;DR: Observations indicate that FSHD is caused by independent de novo DNA rearrangements in the EcoRI fragment detected by p13E–11, and in 10 Dutch families analysed, a specific shorter fragment between 14–28 kb co–segregates with FSHd.
Journal ArticleDOI
Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
A. H. Carey,Dawn Waterworth,Kirty Patel,Davinia White,Julie Little,Patricia Novelli,Stephen Franks,Robert Williamson +7 more
TL;DR: Variation in the A2 allele of the CYP17 gene is a significant factor modifying the expression of PCO/MPB in families where it has been demonstrated to segregate as a single gene disorder, but it is excluded as the primary genetic defect.