Refetoff S - Search Results

1

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

Gika AD, Siddiqui A, Hulse AJ, Edward S, Fallon P, McEntagart ME, Jan W, Josifova D, Lerman-Sagie T, Drummond J, Thompson E, Refetoff S, Bönnemann CG, Jungbluth H. Gika AD, et al. Among authors: refetoff s. Dev Med Child Neurol. 2010 May;52(5):475-82. doi: 10.1111/j.1469-8749.2009.03471.x. Epub 2009 Oct 7. Dev Med Child Neurol. 2010. PMID: 19811520 Free PMC article.

2

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.

Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. Brockmann K, et al. Among authors: refetoff s. J Neurol. 2005 Jun;252(6):663-6. doi: 10.1007/s00415-005-0713-3. Epub 2005 Apr 18. J Neurol. 2005. PMID: 15834651

3

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Am J Hum Genet. 2004 Jan;74(1):168-75. doi: 10.1086/380999. Epub 2003 Dec 5. Am J Hum Genet. 2004. PMID: 14661163 Free PMC article.

4

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.

López-Espíndola D, Morales-Bastos C, Grijota-Martínez C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, Guadaño-Ferraz A. López-Espíndola D, et al. Among authors: refetoff s. J Clin Endocrinol Metab. 2014 Dec;99(12):E2799-804. doi: 10.1210/jc.2014-2162. J Clin Endocrinol Metab. 2014. PMID: 25222753 Free PMC article.

5

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.

Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S. Refetoff S, et al. Thyroid. 2021 May;31(5):713-720. doi: 10.1089/thy.2020.0306. Epub 2020 Sep 25. Thyroid. 2021. PMID: 32746752 Free PMC article.

6

AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.

Liao XH, Avalos P, Shelest O, Ofan R, Shilo M, Bresee C, Likhite S, Vit JP, Heuer H, Kaspar B, Meyer K, Dumitrescu AM, Refetoff S, Svendsen CN, Vatine GD. Liao XH, et al. Among authors: refetoff s. Thyroid. 2022 Jul;32(7):849-859. doi: 10.1089/thy.2022.0034. Epub 2022 May 20. Thyroid. 2022. PMID: 35350867 Free PMC article.

7

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Nat Genet. 2005 Nov;37(11):1247-52. doi: 10.1038/ng1654. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16228000

8

Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.

Refetoff S, Dumitrescu AM. Refetoff S, et al. Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):277-305. doi: 10.1016/j.beem.2007.03.005. Best Pract Res Clin Endocrinol Metab. 2007. PMID: 17574009 Review.

9

Novel biological and clinical aspects of thyroid hormone metabolism.

Dumitrescu AM, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Endocr Dev. 2007;10:127-139. doi: 10.1159/000106824. Endocr Dev. 2007. PMID: 17684394 Review.

10

A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.

Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. Di Cosmo C, et al. Among authors: refetoff s. Endocrinology. 2009 Sep;150(9):4450-8. doi: 10.1210/en.2009-0209. Epub 2009 Jun 4. Endocrinology. 2009. PMID: 19497976 Free PMC article.

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