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Page 1
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
Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat.
Joustra SD, Meijer OC, Heinen CA, Mol IM, Laghmani el H, Sengers RM, Carreno G, van Trotsenburg AS, Biermasz NR, Bernard DJ, Wit JM, Oostdijk W, van Pelt AM, Hamer G, Wagenaar GT. Joustra SD, et al. J Endocrinol. 2015 Sep;226(3):181-91. doi: 10.1530/JOE-15-0204. Epub 2015 Jul 10. J Endocrinol. 2015. PMID: 26163525
Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.
Joustra SD, Roelfsema F, Endert E, Ballieux BE, van Trotsenburg AS, Fliers E, Corssmit EP, Bernard DJ, Oostdijk W, Wit JM, Pereira AM, Biermasz NR. Joustra SD, et al. Neuroendocrinology. 2016;103(3-4):408-16. doi: 10.1159/000439433. Epub 2015 Aug 25. Neuroendocrinology. 2016. PMID: 26336917
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. 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.
37 results