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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.
Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.
Elfferich P, van Royen ME, van de Wijngaart DJ, Trapman J, Drop SL, van den Akker EL, Lusher SJ, Bosch R, Bunch T, Hughes IA, Houtsmuller AB, Cools M, Faradz SM, Bisschop PH, Bunck MC, Oostdijk W, Brüggenwirth HT, Brinkmann AO. Elfferich P, et al. Among authors: van den akker el, van royen me, van de wijngaart dj. Sex Dev. 2013;7(5):223-34. doi: 10.1159/000351820. Epub 2013 Jun 12. Sex Dev. 2013. PMID: 23774508 Free article.
Increased scalp hair cortisol concentrations in obese children.
Veldhorst MA, Noppe G, Jongejan MH, Kok CB, Mekic S, Koper JW, van Rossum EF, van den Akker EL. Veldhorst MA, et al. Among authors: van den akker el, van rossum ef. J Clin Endocrinol Metab. 2014 Jan;99(1):285-90. doi: 10.1210/jc.2013-2924. Epub 2014 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24384019
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.
Determinants of Advanced Bone Age in Childhood Obesity
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de Groot CJ, van den Berg A, Ballieux BEPB, Kroon HM, Rings EHHM, Wit JM, van den Akker ELT. de Groot CJ, et al. Horm Res Paediatr. 2017;87(4):254-263. doi: 10.1159/000467393. Epub 2017 Mar 31. Horm Res Paediatr. 2017. PMID: 28365712 Free PMC article. Clinical Trial.
Mutations in IRS4 are associated with central hypothyroidism.
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E. Heinen CA, et al. J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30. J Med Genet. 2018. PMID: 30061370 Free PMC article.
Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.
van der Linde AAA, Schönbeck Y, van der Kamp HJ, van den Akker ELT, van Albada ME, Boelen A, Finken MJJ, Hannema SE, Hoorweg-Nijman G, Odink RJ, Schielen PCJI, Straetemans S, van Trotsenburg PS, Claahsen-van der Grinten HL, Verkerk PH. van der Linde AAA, et al. Arch Dis Child. 2019 Jul;104(7):653-657. doi: 10.1136/archdischild-2018-315972. Epub 2019 Feb 2. Arch Dis Child. 2019. PMID: 30712004
168 results