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A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6.
Clin Genet. 2013.
PMID: 23216102
No abstract available.
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
Richards AJ, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, Snead MP.
Richards AJ, et al. Among authors: oakhill k.
Eur J Hum Genet. 2012 May;20(5):552-8. doi: 10.1038/ejhg.2011.223. Epub 2011 Dec 21.
Eur J Hum Genet. 2012.
PMID: 22189268
Free PMC article.
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Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.
Richards AJ, et al. Among authors: oakhill k.
Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257.
Hum Mutat. 2010.
PMID: 20513134
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RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.
Cranston AN, Carniti C, Oakhill K, Radzio-Andzelm E, Stone EA, McCallion AS, Hodgson S, Clarke S, Mondellini P, Leyland J, Pierotti MA, Whittaker J, Taylor SS, Bongarzone I, Ponder BA.
Cranston AN, et al. Among authors: oakhill k.
Cancer Res. 2006 Oct 15;66(20):10179-87. doi: 10.1158/0008-5472.CAN-06-0884.
Cancer Res. 2006.
PMID: 17047083
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