Bikker H - Search Results

1

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.

Lauffer P, Bikker H, Garrelfs MR, Hillebrand JJG, de Sonnaville MCS, Zwaveling-Soonawala N, van Trotsenburg ASP. Lauffer P, et al. Among authors: bikker h. Thyroid. 2021 Nov;31(11):1757-1762. doi: 10.1089/thy.2021.0204. Epub 2021 Sep 16. Thyroid. 2021. PMID: 34382419

2

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report.

Lauffer P, Bikker H, Boelen A, Jöbsis JJ, van Trotsenburg ASP, Zwaveling-Soonawala N. Lauffer P, et al. Among authors: bikker h. Thyroid. 2022 Apr;32(4):472-474. doi: 10.1089/thy.2021.0651. Thyroid. 2022. PMID: 35102753

3

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C. Moreno JC, et al. Among authors: bikker h. N Engl J Med. 2002 Jul 11;347(2):95-102. doi: 10.1056/NEJMoa012752. N Engl J Med. 2002. PMID: 12110737 Free article.

4

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: bikker h. 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.

5

A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity.

Hengeveld RCC, Albersen M, Hadders MAH, Hellinga I, Bikker H, Heijboer AC, Paul van Trotsenburg AS, Hillebrand JJ, Boelen A, Zwaveling-Soonawala N. Hengeveld RCC, et al. Among authors: bikker h. Horm Res Paediatr. 2021;94(1-2):76-80. doi: 10.1159/000516691. Epub 2021 Jun 14. Horm Res Paediatr. 2021. PMID: 34126618 Free article.

6

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation.

Mooij CF, Tacke CE, van Albada ME, Barthlen W, Bikker H, Mohnike K, Oomen MWN, van Trotsenburg ASP, Zwaveling-Soonawala N. Mooij CF, et al. Among authors: bikker h. Ann Pediatr Endocrinol Metab. 2021 Dec;26(4):278-283. doi: 10.6065/apem.2142010.005. Epub 2021 May 7. Ann Pediatr Endocrinol Metab. 2021. PMID: 33971706 Free PMC article.

7

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Carvalho A, Hermanns P, Rodrigues AL, Sousa I, Anselmo J, Bikker H, Cabral R, Pereira-Duarte C, Mota-Vieira L, Pohlenz J. Carvalho A, et al. Among authors: bikker h. Thyroid. 2013 Sep;23(9):1074-8. doi: 10.1089/thy.2012.0649. Thyroid. 2013. PMID: 23647375

8

Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

Bakker B, Bikker H, Hennekam RC, Lommen EJ, Schipper MG, Vulsma T, de Vijlder JJ. Bakker B, et al. Among authors: bikker h. J Clin Endocrinol Metab. 2001 Mar;86(3):1164-8. doi: 10.1210/jcem.86.3.7313. J Clin Endocrinol Metab. 2001. PMID: 11238503

9

Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.

Bikker H, Waelkens JJ, Bravenboer B, de Vijlder JJ. Bikker H, et al. J Clin Endocrinol Metab. 1996 Jun;81(6):2076-9. doi: 10.1210/jcem.81.6.8964831. J Clin Endocrinol Metab. 1996. PMID: 8964831

10

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ. Bakker B, et al. Among authors: bikker h. J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12. doi: 10.1210/jcem.85.10.6878. J Clin Endocrinol Metab. 2000. PMID: 11061528

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