Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
…, RHJ Staals, NC Wake, GA Fews, H Gill, D Gentle… - Nature …, 2012 - nature.com
Perlman syndrome is a congenital overgrowth syndrome inherited in an autosomal
recessive manner that is associated with Wilms tumor susceptibility. We mapped a …
recessive manner that is associated with Wilms tumor susceptibility. We mapped a …
Impact of body weight on urinary electrolytes in urinary stone formers
Objectives. Obesity increases the risk of developing chronic medical conditions such as
diabetes mellitus, hypertension, and coronary artery disease. We performed a retrospective …
diabetes mellitus, hypertension, and coronary artery disease. We performed a retrospective …
[HTML][HTML] Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and …
…, S Keenan, S Pasha, F Rahman, D Gentle… - PLoS …, 2010 - journals.plos.org
The histiocytoses are a heterogeneous group of disorders characterised by an excessive
number of histiocytes. In most cases the pathophysiology is unclear and treatment is …
number of histiocytes. In most cases the pathophysiology is unclear and treatment is …
Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma
The detection of promoter region hypermethylation and transcriptional silencing has
facilitated the identification of candidate renal cell carcinoma (RCC) tumour suppressor …
facilitated the identification of candidate renal cell carcinoma (RCC) tumour suppressor …
Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma
MR Morris, C Ricketts, D Gentle, M Abdulrahman… - Oncogene, 2010 - nature.com
Promoter region hyermethylation and transcriptional silencing is a frequent cause of tumour
suppressor gene (TSG) inactivation in many types of human cancers. Functional epigenetic …
suppressor gene (TSG) inactivation in many types of human cancers. Functional epigenetic …
Genome-wide DNA methylation profiling of CpG islands in breast cancer identifies novel genes associated with tumorigenicity
VK Hill, C Ricketts, I Bieche, S Vacher, D Gentle… - Cancer research, 2011 - AACR
Epigenetic profiling of tumor DNAs may reveal important new theranostic targets to improve
prognosis and treatment of advanced cancer patients. In this study, we performed a genome …
prognosis and treatment of advanced cancer patients. In this study, we performed a genome …
[HTML][HTML] Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour
D Astuti, F Latif, K Wagner, D Gentle… - British journal of …, 2005 - nature.com
Epigenetic alterations in the 11p15. 5 imprinted gene cluster are frequent in human cancers
and are associated with disordered imprinting of insulin-like growth factor (IGF) 2 and H19 …
and are associated with disordered imprinting of insulin-like growth factor (IGF) 2 and H19 …
DNA methylation profiles of long-and short-term glioblastoma survivors
T Shinawi, VK Hill, D Krex, G Schackert, D Gentle… - Epigenetics, 2013 - Taylor & Francis
Glioblastoma (GBM) is the most common and malignant type of primary brain tumor in adults
and prognosis of most GBM patients is poor. However, a small percentage of patients show …
and prognosis of most GBM patients is poor. However, a small percentage of patients show …
Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma
Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be caused by
mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1 …
mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1 …
[HTML][HTML] A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers
Background Genetic as well as epigenetic alterations are a hallmark of both epithelial and
haematological malignancies. High throughput screens are required to identify epigenetic …
haematological malignancies. High throughput screens are required to identify epigenetic …