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149 results

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A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Roche EF, McGowan A, Koulouri O, Turgeon MO, Nicholas AK, Heffernan E, El-Khairi R, Abid N, Lyons G, Halsall D, Bonomi M, Persani L, Dattani MT, Gurnell M, Bernard DJ, Schoenmakers N. Roche EF, et al. Among authors: halsall d. Clin Endocrinol (Oxf). 2018 Dec;89(6):813-823. doi: 10.1111/cen.13827. Epub 2018 Oct 1. Clin Endocrinol (Oxf). 2018. PMID: 30086211 Free PMC article.
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
Moran C, Schoenmakers N, Agostini M, Schoenmakers E, Offiah A, Kydd A, Kahaly G, Mohr-Kahaly S, Rajanayagam O, Lyons G, Wareham N, Halsall D, Dattani M, Hughes S, Gurnell M, Park SM, Chatterjee K. Moran C, et al. Among authors: halsall d. J Clin Endocrinol Metab. 2013 Nov;98(11):4254-61. doi: 10.1210/jc.2013-2215. Epub 2013 Aug 12. J Clin Endocrinol Metab. 2013. PMID: 23940126
Pitfalls in the measurement and interpretation of thyroid function tests.
Koulouri O, Moran C, Halsall D, Chatterjee K, Gurnell M. Koulouri O, et al. Among authors: halsall d. Best Pract Res Clin Endocrinol Metab. 2013 Dec;27(6):745-62. doi: 10.1016/j.beem.2013.10.003. Epub 2013 Oct 17. Best Pract Res Clin Endocrinol Metab. 2013. PMID: 24275187 Free PMC article. Review.
A mutation in the thyroid hormone receptor alpha gene.
Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K. Bochukova E, et al. Among authors: halsall d. N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14. N Engl J Med. 2012. PMID: 22168587 Free article.
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K. Schoenmakers N, et al. Among authors: halsall d. J Clin Endocrinol Metab. 2014 Jul;99(7):E1381-6. doi: 10.1210/jc.2013-4077. Epub 2014 Mar 19. J Clin Endocrinol Metab. 2014. PMID: 24646103 Free PMC article.
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK. Moran C, et al. Among authors: halsall d. Lancet Diabetes Endocrinol. 2014 Aug;2(8):619-26. doi: 10.1016/S2213-8587(14)70111-1. Epub 2014 Jun 23. Lancet Diabetes Endocrinol. 2014. PMID: 24969835 Free PMC article.
149 results