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167 results

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Page 1
Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y, Turgeon MO, London S, Hermanns P, Pohlenz J, Bernard DJ, Bercovich D. Tenenbaum-Rakover Y, et al. Among authors: bernard dj. Thyroid. 2016 Dec;26(12):1693-1700. doi: 10.1089/thy.2015.0672. Epub 2016 Jul 25. Thyroid. 2016. PMID: 27310681
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group. Joustra SD, et al. Among authors: bernard dj. J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3. J Clin Endocrinol Metab. 2016. PMID: 26840047 Free PMC article.
TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.
Turgeon MO, Silander TL, Doycheva D, Liao XH, Rigden M, Ongaro L, Zhou X, Joustra SD, Wit JM, Wade MG, Heuer H, Refetoff S, Bernard DJ. Turgeon MO, et al. Among authors: bernard dj. Endocrinology. 2017 Apr 1;158(4):815-830. doi: 10.1210/en.2016-1788. Endocrinology. 2017. PMID: 28324000 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: bernard dj. 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: bernard dj. 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: bernard dj. 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.
167 results