Boelen A - Search Results

1

Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin.

Stroek K, Heijboer AC, van Veen-Sijne M, Bosch AM, van der Ploeg CPB, Zwaveling-Soonawala N, de Jonge R, van Trotsenburg ASP, Boelen A. Stroek K, et al. Among authors: boelen a. Eur Thyroid J. 2021 Jun;10(3):222-229. doi: 10.1159/000513516. Epub 2021 Mar 5. Eur Thyroid J. 2021. PMID: 34178708 Free PMC article.

2

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

ten Hoedt AE, van Kempen AA, Boelen A, Duran M, Kemper-Proper EA, Oey-Spauwen MJ, Wijburg FA, Bosch AM. ten Hoedt AE, et al. Among authors: boelen a. J Inherit Metab Dis. 2007 Nov;30(6):978. doi: 10.1007/s10545-007-0701-0. Epub 2007 Sep 16. J Inherit Metab Dis. 2007. PMID: 17876719

3

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: boelen a. 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.

4

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

Kemper EA, Boelen A, Bosch AM, van Veen-Sijne M, van Rijswijk CN, Bouva MJ, Fingerhut R, Schielen PC. Kemper EA, et al. Among authors: boelen a. JIMD Rep. 2017;32:1-6. doi: 10.1007/8904_2016_560. Epub 2016 May 21. JIMD Rep. 2017. PMID: 27207469 Free PMC article.

5

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: boelen a. 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.

6

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

Welling L, Boelen A, Derks TG, Schielen PC, de Vries M, Williams M, Wijburg FA, Bosch AM. Welling L, et al. Among authors: boelen a. Mol Genet Metab. 2017 Mar;120(3):223-228. doi: 10.1016/j.ymgme.2016.12.012. Epub 2016 Dec 29. Mol Genet Metab. 2017. PMID: 28065439

7

Increased circulating interleukin-8 in patients with resistance to thyroid hormone receptor α.

van der Spek AH, Surovtseva OV, Aan S, Tool ATJ, van de Geer A, Demir K, van Gucht ALM, van Trotsenburg ASP, van den Berg TK, Fliers E, Boelen A. van der Spek AH, et al. Among authors: boelen a. Endocr Connect. 2017 Nov;6(8):731-740. doi: 10.1530/EC-17-0213. Endocr Connect. 2017. PMID: 29101248 Free PMC article.

8

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM. Stroek K, et al. Among authors: boelen a. Mol Genet Metab. 2018 May;124(1):50-56. doi: 10.1016/j.ymgme.2018.03.008. Epub 2018 Mar 21. Mol Genet Metab. 2018. PMID: 29580649

9

Effects of intravenous thyrotropin-releasing hormone on ¹⁸F-fluorodeoxyglucose uptake in human brown adipose tissue: a randomized controlled trial.

Heinen CA, Zhang Z, Klieverik LP, de Wit TC, Poel E, Yaqub M, Boelen A, Kalsbeek A, Bisschop PH, van Trotsenburg ASP, Verberne HJ, Booij J, Fliers E. Heinen CA, et al. Among authors: boelen a. Eur J Endocrinol. 2018 Jul;179(1):31-38. doi: 10.1530/EJE-17-0966. Epub 2018 May 3. Eur J Endocrinol. 2018. PMID: 29724865 Clinical Trial.

10

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: boelen a. 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.

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