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Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV. Rogers A, et al. Among authors: gorvin cm. J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708097 Free PMC article.
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.
Newey PJ, Nesbit MA, Rimmer AJ, Attar M, Head RT, Christie PT, Gorvin CM, Stechman M, Gregory L, Mihai R, Sadler G, McVean G, Buck D, Thakker RV. Newey PJ, et al. Among authors: gorvin cm. J Clin Endocrinol Metab. 2012 Oct;97(10):E1995-2005. doi: 10.1210/jc.2012-2303. Epub 2012 Aug 1. J Clin Endocrinol Metab. 2012. PMID: 22855342 Free PMC article.
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, Stechman MJ, Ahmad BN, Hannan FM, Piret SE, Evans H, Bellantuono I, Hough TA, Fraser WD, Hoenderop JG, Ashcroft FM, Brown SD, Bindels RJ, Cox RD, Thakker RV. Loh NY, et al. Among authors: gorvin cm. PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23383183 Free PMC article.
Whole-exome sequencing studies of nonfunctioning pituitary adenomas.
Newey PJ, Nesbit MA, Rimmer AJ, Head RA, Gorvin CM, Attar M, Gregory L, Wass JA, Buck D, Karavitaki N, Grossman AB, McVean G, Ansorge O, Thakker RV. Newey PJ, et al. Among authors: gorvin cm. J Clin Endocrinol Metab. 2013 Apr;98(4):E796-800. doi: 10.1210/jc.2012-4028. Epub 2013 Feb 28. J Clin Endocrinol Metab. 2013. PMID: 23450047 Free PMC article.
Mutant prolactin receptor and familial hyperprolactinemia.
Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV. Newey PJ, et al. Among authors: gorvin cm. N Engl J Med. 2013 Nov 21;369(21):2012-2020. doi: 10.1056/NEJMoa1307557. Epub 2013 Nov 6. N Engl J Med. 2013. PMID: 24195502 Free PMC article.
Mutant prolactin receptor and familial hyperprolactinemia.
Newey PJ, Gorvin CM, Thakker RV. Newey PJ, et al. Among authors: gorvin cm. N Engl J Med. 2014 Mar 6;370(10):977-8. doi: 10.1056/NEJMc1315848. N Engl J Med. 2014. PMID: 24597877 No abstract available.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: gorvin cm. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
61 results