Visser TJ - Search Results

1

Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.

Anık A, Kersseboom S, Demir K, Catlı G, Yiş U, Böber E, van Mullem A, van Herebeek RE, Hız S, Abacı A, Visser TJ. Anık A, et al. Among authors: visser tj. Horm Res Paediatr. 2014;82(4):261-71. doi: 10.1159/000365191. Epub 2014 Sep 18. Horm Res Paediatr. 2014. PMID: 25247785

2

MCT8: from gene to disease and therapeutic approach.

Kersseboom S, Visser TJ. Kersseboom S, et al. Among authors: visser tj. Ann Endocrinol (Paris). 2011 Apr;72(2):77-81. doi: 10.1016/j.ando.2011.03.003. Epub 2011 Apr 20. Ann Endocrinol (Paris). 2011. PMID: 21511238

3

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

Demir K, van Gucht AL, Büyükinan M, Çatlı G, Ayhan Y, Baş VN, Dündar B, Özkan B, Meima ME, Visser WE, Peeters RP, Visser TJ. Demir K, et al. Among authors: visser tj, visser we. J Clin Endocrinol Metab. 2016 Aug;101(8):2945-54. doi: 10.1210/jc.2016-1404. Epub 2016 May 4. J Clin Endocrinol Metab. 2016. PMID: 27144938

4

Tissue-specific effects of mutations in the thyroid hormone transporter MCT8.

Kersseboom S, Visser TJ. Kersseboom S, et al. Among authors: visser tj. Arq Bras Endocrinol Metabol. 2011 Feb;55(1):1-5. doi: 10.1590/s0004-27302011000100001. Arq Bras Endocrinol Metabol. 2011. PMID: 21468514 No abstract available.

5

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

Capri Y, Friesema EC, Kersseboom S, Touraine R, Monnier A, Eymard-Pierre E, Des Portes V, De Michele G, Brady AF, Boespflug-Tanguy O, Visser TJ, Vaurs-Barriere C. Capri Y, et al. Among authors: visser tj. Hum Mutat. 2013 Jul;34(7):1018-25. doi: 10.1002/humu.22331. Epub 2013 May 1. Hum Mutat. 2013. PMID: 23568789

6

The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8.

Groeneweg S, Friesema EC, Kersseboom S, Klootwijk W, Visser WE, Peeters RP, Visser TJ. Groeneweg S, et al. Among authors: visser tj, visser we. Endocrinology. 2014 Feb;155(2):618-26. doi: 10.1210/en.2013-1521. Epub 2013 Nov 21. Endocrinology. 2014. PMID: 24265446

7

Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.

van Mullem AA, Visser TJ, Peeters RP. van Mullem AA, et al. Among authors: visser tj. Eur Thyroid J. 2014 Mar;3(1):17-24. doi: 10.1159/000360637. Epub 2014 Mar 14. Eur Thyroid J. 2014. PMID: 24847461 Free PMC article. Review.

8

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

Armour CM, Kersseboom S, Yoon G, Visser TJ. Armour CM, et al. Among authors: visser tj. PLoS One. 2015 Oct 1;10(10):e0139343. doi: 10.1371/journal.pone.0139343. eCollection 2015. PLoS One. 2015. PMID: 26426690 Free PMC article.

9

Characterization of Chicken Thyroid Hormone Transporters.

Bourgeois NM, Van Herck SL, Vancamp P, Delbaere J, Zevenbergen C, Kersseboom S, Darras VM, Visser TJ. Bourgeois NM, et al. Among authors: visser tj. Endocrinology. 2016 Jun;157(6):2560-74. doi: 10.1210/en.2015-2025. Epub 2016 Apr 12. Endocrinology. 2016. PMID: 27070099

10

Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

Kersseboom S, Kremers GJ, Friesema EC, Visser WE, Klootwijk W, Peeters RP, Visser TJ. Kersseboom S, et al. Among authors: visser tj, visser we. Mol Endocrinol. 2013 May;27(5):801-13. doi: 10.1210/me.2012-1356. Epub 2013 Apr 2. Mol Endocrinol. 2013. PMID: 23550058 Free PMC article.

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