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Page 1
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: wit jm. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
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. Among authors: wit jm. Neuroendocrinology. 2016;103(3-4):408-16. doi: 10.1159/000439433. Epub 2015 Aug 25. Neuroendocrinology. 2016. PMID: 26336917
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. Among authors: wit jm. 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
Overgrowth syndromes:from classical to new.
Visser R, Kant SG, Wit JM, Breuning MH. Visser R, et al. Among authors: wit jm. Pediatr Endocrinol Rev. 2009 Mar;6(3):375-94. Pediatr Endocrinol Rev. 2009. PMID: 19396024 Review.
Copy number variants in patients with short stature.
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: wit jm. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.
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. Among authors: wit jm. 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. Among authors: wit jm. 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
Is IGSF1 involved in human pituitary tumor formation?
Faucz FR, Horvath AD, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA. Faucz FR, et al. Among authors: wit jm. Endocr Relat Cancer. 2015 Feb;22(1):47-54. doi: 10.1530/ERC-14-0465. Epub 2014 Dec 19. Endocr Relat Cancer. 2015. PMID: 25527509 Free PMC article.
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. Among authors: wit jm. J Endocrinol. 2015 Sep;226(3):181-91. doi: 10.1530/JOE-15-0204. Epub 2015 Jul 10. J Endocrinol. 2015. PMID: 26163525
500 results