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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
Stroek K, Ruiter A, van der Linde A, Ackermans M, Bouva MJ, Engel H, Jakobs B, Kemper EA, van den Akker ELT, van Albada ME, Bocca G, Finken MJJ, Hannema SE, Mieke Houdijk ECA, van der Kamp HJ, van Tellingen V, Paul van Trotsenburg AS, Zwaveling-Soonawala N, Bosch AM, de Jonge R, Heijboer AC, Claahsen-van der Grinten HL, Boelen A. Stroek K, et al. Among authors: van der linde a, van tellingen v, van den akker elt, van der kamp hj, van albada me. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4487-e4496. doi: 10.1210/clinem/dgab464. J Clin Endocrinol Metab. 2021. PMID: 34171085
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.
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. 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.
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. Among authors: van trotsenburg asp, van den akker elt. 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. Among authors: van den akker elt, van trotsenburg ps, van der kamp hj, van albada me. 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
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst L, Abawi O, van der Kamp HJ, Alders M, Meijers-Heijboer HEJ, van Rossum EFC, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van den akker elt, van der kamp hj. Eur J Endocrinol. 2020 Jan;182(1):47-56. doi: 10.1530/EJE-19-0678. Eur J Endocrinol. 2020. PMID: 31658438 Review.
165 results