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Page 1
An Approach to a Patient With Primary Hyperparathyroidism and a Suspected Ectopic Parathyroid Adenoma.
Glasgow C, Lau EYC, Aloj L, Harper I, Cheow H, Das T, Berman L, Powlson AS, Bashari WA, Challis BG, Marker A, Moyle P, Mohamed IA, Schoenmakers N, Broomfield J, Oddy S, Moran C, Gurnell M, Jani P, Masterson L, Fish B, Casey RT. Glasgow C, et al. Among authors: schoenmakers n. J Clin Endocrinol Metab. 2022 May 17;107(6):1706-1713. doi: 10.1210/clinem/dgac024. J Clin Endocrinol Metab. 2022. PMID: 35150267
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: schoenmakers n, schoenmakers e. 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
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. 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: schoenmakers n, schoenmakers e. 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.
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.
Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N. Koulouri O, et al. Among authors: schoenmakers n, schoenmakers e. J Clin Endocrinol Metab. 2016 Mar;101(3):847-51. doi: 10.1210/jc.2015-3916. Epub 2016 Jan 6. J Clin Endocrinol Metab. 2016. PMID: 26735259 Free PMC article.
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: schoenmakers n. 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.
IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N. Joustra SD, et al. Among authors: schoenmakers n. J Clin Endocrinol Metab. 2020 Mar 1;105(3):e70-84. doi: 10.1210/clinem/dgz093. J Clin Endocrinol Metab. 2020. PMID: 31650157 Free PMC article.
Response to Letter to the Editor: "IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction".
Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Bassett JHD, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N. Joustra SD, et al. Among authors: schoenmakers n. J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2315-6. doi: 10.1210/clinem/dgaa147. J Clin Endocrinol Metab. 2020. PMID: 32211768 Free PMC article. No abstract available.
64 results