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Trevor Cole
Trevor Cole
Professor Of Medical Genetics University of Birmingham UK
在 nhs.net 的电子邮件经过验证
标题
引用次数
引用次数
年份
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
N Mavaddat, S Peock, D Frost, S Ellis, R Platte, E Fineberg, DG Evans, ...
JNCI: Journal of the National Cancer Institute 105 (11), 812-822, 2013
11072013
Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer
E Castro, C Goh, D Olmos, E Saunders, D Leongamornlert, ...
Journal of Clinical Oncology 31 (14), 1748-1757, 2013
9062013
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7732015
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
7602003
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, ...
Nature 482 (7383), 98-102, 2012
6652012
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, ...
Nature genetics 45 (4), 371-384, 2013
6542013
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ...
Jama 313 (13), 1347-1361, 2015
5672015
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
T Singh, MI Kurki, D Curtis, SM Purcell, L Crooks, J McRae, J Suvisaari, ...
Nature neuroscience 19 (4), 571-577, 2016
4422016
Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
FM Richards, SA McKee, MH Rajpar, TRP Cole, DGR Evans, ...
Human molecular genetics 8 (4), 607-610, 1999
4381999
Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases
M Elliott, R Bayly, T Cole, IK Temple, ER Maher
Clinical genetics 46 (2), 168-174, 1994
4121994
Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
CJ Ricketts, JR Forman, E Rattenberry, N Bradshaw, F Lalloo, L Izatt, ...
Human mutation 31 (1), 41-51, 2010
4092010
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
4052004
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
4022018
Effect of BRCA mutations on metastatic relapse and cause-specific survival after radical treatment for localised prostate cancer
E Castro, C Goh, D Leongamornlert, E Saunders, M Tymrakiewicz, ...
European urology 68 (2), 186-193, 2015
3762015
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown, J Douglas, K Coleman, G Baujat, TRP Cole, S Das, ...
The American Journal of Human Genetics 77 (2), 193-204, 2005
3682005
Sotos syndrome: a study of the diagnostic criteria and natural history.
TR Cole, HE Hughes
Journal of medical genetics 31 (1), 20-32, 1994
3631994
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
3322013
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in …
E Gianetti, C Tusset, SD Noel, MG Au, AA Dwyer, VA Hughes, AP Abreu, ...
The Journal of Clinical Endocrinology & Metabolism 95 (6), 2857-2867, 2010
3152010
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ...
Nature genetics 47 (2), 164-171, 2015
3112015
Identification of New Variants of Human BMP15 Gene in a Large Cohort of Women with Premature Ovarian Failure
E Di Pasquale, R Rossetti, A Marozzi, B Bodega, S Borgato, L Cavallo, ...
The Journal of Clinical Endocrinology & Metabolism 91 (5), 1976-1979, 2006
2832006
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