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Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Among authors: donohoe me. Genet Med. 2019 Apr;21(4):877-886. doi: 10.1038/s41436-018-0271-6. Epub 2018 Sep 5. Genet Med. 2019. PMID: 30181606 Free PMC article.
Response to Prakash et al.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Among authors: donohoe me. Genet Med. 2019 Aug;21(8):1884-1885. doi: 10.1038/s41436-018-0412-y. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573795 Free article. No abstract available.
A novel case of a raised testosterone and LH in a young man.
McDonald TJ, Perry MH, Jones AG, Donohoe M, Salzmann MB, O'Connor J. McDonald TJ, et al. Among authors: donohoe m. Clin Chim Acta. 2011 Oct 9;412(21-22):1999-2001. doi: 10.1016/j.cca.2011.06.028. Epub 2011 Jul 12. Clin Chim Acta. 2011. PMID: 21756889
154 results