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143 results

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Page 1
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. Among authors: van trotsenburg as. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
A European Network for the Investigation of Gender Incongruence in adolescents.
Boogers LS, Wiepjes CM, Staphorsius AS, Klink DT, Ciancia S, Romani A, Stolk THR, van den Boogaard E, Steensma TD, de Vries ALC, van Trotsenburg ASP, den Heijer M, Fisher AD, Cools M, Hannema SE. Boogers LS, et al. Among authors: van trotsenburg asp. J Sex Med. 2024 Mar 28;21(4):350-356. doi: 10.1093/jsxmed/qdae014. J Sex Med. 2024. PMID: 38427555
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: van trotsenburg as. 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.
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: van pelt am, van trotsenburg as. 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. Among authors: van trotsenburg as. Neuroendocrinology. 2016;103(3-4):408-16. doi: 10.1159/000439433. Epub 2015 Aug 25. Neuroendocrinology. 2016. PMID: 26336917
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: van den akker el, van trotsenburg as, van rijn rr. 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.
Early thyroxine treatment in Down syndrome and thyroid function later in life.
Zwaveling-Soonawala N, Witteveen ME, Marchal JP, Klouwer FCC, Ikelaar NA, Smets AMJB, van Rijn RR, Endert E, Fliers E, van Trotsenburg ASP. Zwaveling-Soonawala N, et al. Eur J Endocrinol. 2017 May;176(5):505-513. doi: 10.1530/EJE-16-0858. Epub 2017 Jan 30. Eur J Endocrinol. 2017. PMID: 28137734 Clinical Trial.
Variants in KAT6A and pituitary anomalies.
Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.
143 results