Dumitrescu AM - Search Results

1

A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.

Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. Ferrara AM, et al. Among authors: dumitrescu am. J Clin Endocrinol Metab. 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490. J Clin Endocrinol Metab. 2015. PMID: 25361180 Free PMC article.

2

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Pohlenz J, et al. J Clin Endocrinol Metab. 2002 Jan;87(1):336-9. doi: 10.1210/jcem.87.1.8154. J Clin Endocrinol Metab. 2002. PMID: 11788671

3

Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Pohlenz J, et al. J Clin Invest. 2002 Feb;109(4):469-73. doi: 10.1172/JCI14192. J Clin Invest. 2002. PMID: 11854318 Free PMC article.

4

Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.

Reutrakul S, Dumitrescu A, Macchia PE, Moll GW Jr, Vierhapper H, Refetoff S. Reutrakul S, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1045-51. doi: 10.1210/jcem.87.3.8275. J Clin Endocrinol Metab. 2002. PMID: 11889160

5

A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.

Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. Ishay A, et al. Thyroid. 2003 Apr;13(4):409-12. doi: 10.1089/105072503321669938. Thyroid. 2003. PMID: 12804112 No abstract available.

6

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. 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.

7

Thyroid hormone responsive genes in cultured human fibroblasts.

Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Moeller LC, et al. Among authors: dumitrescu am. J Clin Endocrinol Metab. 2005 Feb;90(2):936-43. doi: 10.1210/jc.2004-1768. Epub 2004 Oct 26. J Clin Endocrinol Metab. 2005. PMID: 15507505

8

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. Lado-Abeal J, et al. Among authors: dumitrescu am. J Clin Endocrinol Metab. 2005 Mar;90(3):1760-7. doi: 10.1210/jc.2004-1488. Epub 2004 Dec 14. J Clin Endocrinol Metab. 2005. PMID: 15598685

9

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: dumitrescu am. J Neurol. 2005 Jun;252(6):663-6. doi: 10.1007/s00415-005-0713-3. Epub 2005 Apr 18. J Neurol. 2005. PMID: 15834651

10

Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.

Moeller LC, Dumitrescu AM, Refetoff S. Moeller LC, et al. Among authors: dumitrescu am. Mol Endocrinol. 2005 Dec;19(12):2955-63. doi: 10.1210/me.2004-0542. Epub 2005 Jul 28. Mol Endocrinol. 2005. PMID: 16051672

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

110 results

Search Page