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    • Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 

      Clissold, Rhian L.; Shaw-Smith, Charles; Turnpenny, Peter D.; Bunce, Benjamin; Bockenhauer, D.; Kerecuk, L.; Waller, S.; Bowman, Pamela; Ford, T.; Ellard, Sian; Hattersley, Andrew T.; Bingham, Coralie (Elsevier, 2016-05-24)
      Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 ...
    • Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition 

      Mikropoulos, C [et al]; McGrath, John S; Brewer, Carole (Nature, 2018-01-04)
      Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due ...
    • Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers 

      Brewer, Carole (Elsevier, 2019-12)
      Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.

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    AuthorBrewer, Carole (2)Bingham, Coralie (1)Bockenhauer, D. (1)Bowman, Pamela (1)Bunce, Benjamin (1)Clissold, Rhian L. (1)Ellard, Sian (1)Ford, T. (1)Hattersley, Andrew T. (1)Kerecuk, L. (1)... View MoreSubject
    Urology (3)
    Oncology. Pathology. (2)... View MoreDate Issued2016 (1)2018 (1)2019 (1)Has File(s)Yes (3)

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