Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes

por Maher, Eamonn R
Publicado en Clin Med (Lond) (2014)

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

por Maher, Eamonn R.
Publicado en World J Urol (2018)

The two-domain hypothesis in Beckwith-Wiedemann syndrome

por Maher, Eamonn R., Reik, Wolf
Publicado 2000

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

por Maher, Eamonn R., Reik, Wolf
Publicado 2000

Cargos and genes: insights into vesicular transport from inherited human disease

por Gissen, Paul, Maher, Eamonn R
Publicado 2007

Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics

por Morris, Mark R, Maher, Eamonn R
Publicado 2010

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

por Dias, Renuka P, Maher, Eamonn R
Publicado 2012

von Hippel–Lindau disease: A clinical and scientific review

por Maher, Eamonn R, Neumann, Hartmut PH, Richard, Stéphane
Publicado 2011

Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine

por Casey, Ruth, Neumann, Hartmut P H, Maher, Eamonn R
Publicado en Hum Mol Genet (2020)

Analysis of Germline Variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in Familial and Sporadic Renal Cell Carcinoma

por Ricketts, Christopher, Zeegers, Maurice P., Lubinski, Jan, Maher, Eamonn R.
Publicado 2009

Clinical utility gene card for: von Hippel–Lindau (VHL)

por Decker, Jochen, Neuhaus, Christine, Macdonald, Fiona, Brauch, Hiltrud, Maher, Eamonn R
Publicado 2014

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer bur...

por Evans, D Gareth, Shenton, Andrew, Woodward, Emma, Lalloo, Fiona, Howell, Anthony, Maher, Eamonn R
Publicado 2008

Frequent Loss of PTEN Expression Is Linked to Elevated Phosphorylated Akt Levels, but Not Associated with p27 and Cyclin D1 Expression, in Primary Epithelial Ovarian Carcinomas

por Kurose, Keisuke, Zhou, Xiao-Ping, Araki, Tsutomu, Cannistra, Stephen A., Maher, Eamonn R., Eng, Charis
Publicado 2001

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado 2010

DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma

por Slater, Amy A., Alokail, Majed, Gentle, Dean, Yao, Masahiro, Kovacs, Gyula, Maher, Eamonn R., Latif, Farida
Publicado 2013

A clinical and genetic analysis of multiple primary cancer referrals to genetics services

por Whitworth, James, Hoffman, Jon, Chapman, Cyril, Ong, Kai Ren, Lalloo, Fiona, Evans, D Gareth, Maher, Eamonn R
Publicado en Eur J Hum Genet (2015)

Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer

por Schödel, Johannes, Grampp, Steffen, Maher, Eamonn R., Moch, Holger, Ratcliffe, Peter J., Russo, Paul, Mole, David R.
Publicado en Eur Urol (2015)

MethylCal: Bayesian calibration of methylation levels

por Ochoa, Eguzkine, Zuber, Verena, Fernandez-Jimenez, Nora, Bilbao, Jose Ramon, Clark, Graeme R, Maher, Eamonn R, Bottolo, Leonardo
Publicado en Nucleic Acids Res (2019)

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

por Antoniou, Antonis C, Shenton, Andrew, Maher, Eamonn R, Watson, Emma, Woodward, Emma, Lalloo, Fiona, Easton, Douglas F, Evans, D Gareth
Publicado 2006

Frequent epigenetic inactivation of KIBRA, an upstream member of the Salvador/Warts/Hippo (SWH) tumor suppressor network, is associated with specific genetic event in B-cell acute...

por Hill, Victoria K, Dunwell, Thomas, Catchpoole, Daniel, Krex, Dietmar, Brini, Anna T, Griffiths, Mike, Craddock, Charles, Maher, Eamonn R, Latif, Farida
Publicado 2011