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Page 1
Mutations in TBL1X Are Associated With Central Hypothyroidism.
Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS. Heinen CA, et al. Among authors: joustra sd. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7. J Clin Endocrinol Metab. 2016. PMID: 27603907 Free PMC article.
Patients previously treated for nonfunctioning pituitary macroadenomas have disturbed sleep characteristics, circadian movement rhythm, and subjective sleep quality.
Biermasz NR, Joustra SD, Donga E, Pereira AM, van Duinen N, van Dijk M, van der Klaauw AA, Corssmit EP, Lammers GJ, van Kralingen KW, van Dijk JG, Romijn JA. Biermasz NR, et al. Among authors: joustra sd. J Clin Endocrinol Metab. 2011 May;96(5):1524-32. doi: 10.1210/jc.2010-2742. Epub 2011 Mar 2. J Clin Endocrinol Metab. 2011. PMID: 21367934
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.
Joustra SD, van Trotsenburg AS, Sun Y, Losekoot M, Bernard DJ, Biermasz NR, Oostdijk W, Wit JM. Joustra SD, et al. Rare Dis. 2013 May 2;1:e24883. doi: 10.4161/rdis.24883. eCollection 2013. Rare Dis. 2013. PMID: 25002994 Free PMC article.
IGSF1 variants in boys with familial delayed puberty.
Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM, Dunkel L, Losekoot M. Joustra SD, et al. Eur J Pediatr. 2015 May;174(5):687-92. doi: 10.1007/s00431-014-2445-9. Epub 2014 Oct 30. Eur J Pediatr. 2015. PMID: 25354429
37 results