User profiles for "author:E R Woodward"
Emma R. WoodwardManchester Centre for Genomic Medicine Verified email at mft.nhs.uk Cited by 6916 |
Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
SC Clifford, ME Cockman, AC Smallwood… - Human molecular …, 2001 - academic.oup.com
Abstract The von Hippel-Lindau tumour suppressor gene product (pVHL) associates with the
elongin B and C and Cul2 proteins to form a ubiquitin-ligase complex (VCBC). To date, the …
elongin B and C and Cul2 proteins to form a ubiquitin-ligase complex (VCBC). To date, the …
Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
CJ Ricketts, JR Forman, E Rattenberry… - Human …, 2010 - Wiley Online Library
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …
Germline SDHB Mutations and Familial Renal Cell Carcinoma
C Ricketts, ER Woodward, P Killick… - Journal of the …, 2008 - academic.oup.com
Familial renal cell carcinoma (RCC) is a heterogeneous disorder that is most commonly
caused by germline mutations in the VHL, MET, and FLCN genes or by constitutional …
caused by germline mutations in the VHL, MET, and FLCN genes or by constitutional …
[HTML][HTML] Von Hippel-Lindau disease and endocrine tumour susceptibility
ER Woodward, ER Maher - Endocrine-related cancer, 2006 - erc.bioscientifica.com
Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome
caused by mutations in the VHL tumour suppressor gene. VHL disease is characterised by …
caused by mutations in the VHL tumour suppressor gene. VHL disease is characterised by …
Multilocus inherited neoplasia alleles syndrome: a case series and review
Mendelian causes of inherited cancer susceptibility are mostly rare and characterized by
variable expression and incomplete penetrance. Phenotypic variability may result from a …
variable expression and incomplete penetrance. Phenotypic variability may result from a …
Genotype–phenotype correlations in von Hippel‐Lindau disease
KR Ong, ER Woodward, P Killick, C Lim… - Human …, 2007 - Wiley Online Library
Abstract von Hippel‐Lindau (VHL) disease is a dominantly inherited familial cancer
syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays …
syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays …
Germline SDHD mutation in familial phaeochromocytoma
D Astuti, F Douglas, TWJ Lennard, IA Aligianis… - The Lancet, 2001 - thelancet.com
The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the
disorder has been reported in some cases of familial head and neck paraganglioma, which …
disorder has been reported in some cases of familial head and neck paraganglioma, which …
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
Background Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent
causes of inherited phaeochromocytomas/paragangliomas. Insufficient information …
causes of inherited phaeochromocytomas/paragangliomas. Insufficient information …
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity
RT Casey, DB Ascher, E Rattenberry… - … Genetics & Genomic …, 2017 - Wiley Online Library
Purpose To evaluate the role of germline SDHA mutation analysis by (1) comprehensive
literature review,(2) description of novel germline SDHA mutations and (3) in silico structural …
literature review,(2) description of novel germline SDHA mutations and (3) in silico structural …
Germline FH Mutations Presenting With Pheochromocytoma
GR Clark, M Sciacovelli, E Gaude… - The Journal of …, 2014 - academic.oup.com
Context: At least a third of the patients with pheochromocytoma (PCC) or paraganglioma
(PGL) harbor an underlying germline mutation in a known PCC/PGL gene. Mutations in …
(PGL) harbor an underlying germline mutation in a known PCC/PGL gene. Mutations in …