Macchia PE - Search Results

1

RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.

Macchia PE, Jiang P, Yuan YD, Chandarardna RA, Weiss RE, Chassande O, Samarut J, Refetoff S, Burant CF. Macchia PE, et al. Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E326-31. doi: 10.1152/ajpendo.00313.2001. Am J Physiol Endocrinol Metab. 2002. PMID: 12110538 Free article.

2

Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S. Pohlenz J, et al. Among authors: macchia pe. J Clin Endocrinol Metab. 1999 Nov;84(11):3919-28. doi: 10.1210/jcem.84.11.6080. J Clin Endocrinol Metab. 1999. PMID: 10566629

3

Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha.

Macchia PE, Takeuchi Y, Kawai T, Cua K, Gauthier K, Chassande O, Seo H, Hayashi Y, Samarut J, Murata Y, Weiss RE, Refetoff S. Macchia PE, et al. Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):349-54. doi: 10.1073/pnas.98.1.349. Proc Natl Acad Sci U S A. 2001. PMID: 11120878 Free PMC article.

4

Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes.

Weiss RE, Chassande O, Koo EK, Macchia PE, Cua K, Samarut J, Refetoff S, Refetoff S. Weiss RE, et al. Among authors: macchia pe. J Endocrinol. 2002 Jan;172(1):177-85. doi: 10.1677/joe.0.1720177. J Endocrinol. 2002. PMID: 11786385

5

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. Among authors: macchia pe. J Clin Endocrinol Metab. 2002 Mar;87(3):1045-51. doi: 10.1210/jcem.87.3.8275. J Clin Endocrinol Metab. 2002. PMID: 11889160

6

Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.

Grasberger H, Mimouni-Bloch A, Vantyghem MC, van Vliet G, Abramowicz M, Metzger DL, Abdullatif H, Rydlewski C, Macchia PE, Scherberg NH, van Sande J, Mimouni M, Weiss RE, Vassart G, Refetoff S. Grasberger H, et al. Among authors: macchia pe. J Clin Endocrinol Metab. 2005 Jul;90(7):4025-34. doi: 10.1210/jc.2005-0572. Epub 2005 May 3. J Clin Endocrinol Metab. 2005. PMID: 15870119 Free article.

7

Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.

Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S. Macchia PE, et al. J Clin Endocrinol Metab. 1995 Dec;80(12):3744-9. doi: 10.1210/jcem.80.12.8530628. J Clin Endocrinol Metab. 1995. PMID: 8530628

8

Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.

Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S. Reutrakul S, et al. Among authors: macchia pe. J Clin Endocrinol Metab. 2000 Oct;85(10):3609-17. doi: 10.1210/jcem.85.10.6873. J Clin Endocrinol Metab. 2000. PMID: 11061510

9

A mouse model demonstrates a multigenic origin of congenital hypothyroidism.

Amendola E, De Luca P, Macchia PE, Terracciano D, Rosica A, Chiappetta G, Kimura S, Mansouri A, Affuso A, Arra C, Macchia V, Di Lauro R, De Felice M. Amendola E, et al. Among authors: macchia pe, macchia v. Endocrinology. 2005 Dec;146(12):5038-47. doi: 10.1210/en.2005-0882. Epub 2005 Sep 8. Endocrinology. 2005. PMID: 16150900

10

Recent advances in understanding the molecular basis of primary congenital hypothyroidism.

Macchia PE. Macchia PE. Mol Med Today. 2000 Jan;6(1):36-42. doi: 10.1016/s1357-4310(99)01620-2. Mol Med Today. 2000. PMID: 10637573 Review.

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