Eamonn Maher
Eamonn Maher
Verified email at medschl.cam.ac.uk
Title
Cited by
Cited by
Year
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
PH Maxwell, MS Wiesener, GW Chang, SC Clifford, EC Vaux, ...
Nature 399 (6733), 271-275, 1999
52341999
Identification of the von Hippel-Lindau disease tumor suppressor gene
F Latif, K Tory, J Gnarra, M Yao, FM Duh, ML Orcutt, T Stackhouse, ...
Science 260 (5112), 1317-1320, 1993
31031993
Hypoxia inducible factor-α binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein
ME Cockman, N Masson, DR Mole, P Jaakkola, GW Chang, SC Clifford, ...
Journal of Biological Chemistry 275 (33), 25733-25741, 2000
12332000
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
D Astuti, F Latif, A Dallol, PLM Dahia, F Douglas, E George, F Sköldberg, ...
The American Journal of Human Genetics 69 (1), 49-54, 2001
10962001
Clinical features and natural history of von Hippel-Lindau disease
ER Maher, JRW Yates, R Harries, C Benjamin, R Harris, AT Moore, ...
QJM: An International Journal of Medicine 77 (2), 1151-1163, 1990
9661990
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
J Burn, AM Gerdes, F Macrae, JP Mecklin, G Moeslein, S Olschwang, ...
The Lancet 378 (9809), 2081-2087, 2011
9202011
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
ML Nickerson, MB Warren, JR Toro, V Matrosova, G Glenn, ML Turner, ...
Cancer cell 2 (2), 157-164, 2002
8512002
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ...
Nature genetics 45 (2), 136-144, 2013
7762013
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
ER Maher, LA Brueton, SC Bowdin, A Luharia, W Cooper, TR Cole, ...
Journal of medical genetics 40 (1), 62-64, 2003
6782003
von Hippel-Lindau disease.
ER Maher, WG Kaelin Jr
Medicine 76 (6), 381-391, 1997
6191997
Von Hippel-Lindau disease: a genetic study.
ER Maher, L Iselius, JR Yates, M Littler, C Benjamin, R Harris, J Sampson, ...
Journal of medical genetics 28 (7), 443-447, 1991
6161991
Familial gastric cancer: overview and guidelines for management
C Caldas, F Carneiro, HT Lynch, J Yokota, GL Wiesner, SM Powell, ...
Journal of medical genetics 36 (12), 873-880, 1999
6121999
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23. 3
IPM Tomlinson, E Webb, L Carvajal-Carmona, P Broderick, K Howarth, ...
Nature genetics 40 (5), 623-630, 2008
6032008
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
B Zbar, T Kishida, F Chen, L Schmidt, ER Maher, FM Richards, ...
Human mutation 8 (4), 348-357, 1996
5661996
von Hippel–Lindau disease: a clinical and scientific review
ER Maher, HPH Neumann, S Richard
European Journal of Human Genetics 19 (6), 617-623, 2011
5352011
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron
SJ Mandriota, KJ Turner, DR Davies, PG Murray, NV Morgan, HM Sowter, ...
Cancer cell 1 (5), 459-468, 2002
5292002
Methylation associated inactivation of RASSF1A from region 3p21. 3 in lung, breast and ovarian tumours
A Agathanggelou, S Honorio, DP Macartney, A Martinez, A Dallol, ...
Oncogene 20 (12), 1509-1518, 2001
5112001
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
JR Sampson, S Dolwani, S Jones, D Eccles, A Ellis, DG Evans, I Frayling, ...
The Lancet 362 (9377), 39-41, 2003
4812003
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
NJ Smilinich, CD Day, GV Fitzpatrick, GM Caldwell, AC Lossie, ...
Proceedings of the National Academy of Sciences 96 (14), 8064-8069, 1999
4721999
PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ...
Nature genetics 38 (7), 752-754, 2006
4692006
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