Weiss RE - Search Results

1

Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).

Shareef R, Furman A, Watanabe Y, Bruellman R, Abdullah MA, Dumitresu AM, Refetoff S, Bertolini A, Borsò M, Saba A, Zucchi R, Weiss RE. Shareef R, et al. Among authors: weiss re. Thyroid. 2023 Feb;33(2):261-266. doi: 10.1089/thy.2022.0492. Thyroid. 2023. PMID: 36633921 Free PMC article.

2

Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.

Takeda K, Weiss RE, Refetoff S. Takeda K, et al. Among authors: weiss re. J Clin Endocrinol Metab. 1992 Apr;74(4):712-9. doi: 10.1210/jcem.74.4.1548332. J Clin Endocrinol Metab. 1992. PMID: 1548332

3

Thyroid hormone resistance.

Weiss RE, Refetoff S. Weiss RE, et al. Annu Rev Med. 1992;43:363-75. doi: 10.1146/annurev.me.43.020192.002051. Annu Rev Med. 1992. PMID: 1580595 Review.

4

Neonatal detection of generalized resistance to thyroid hormone.

Weiss RE, Balzano S, Scherberg NH, Refetoff S. Weiss RE, et al. JAMA. 1990 Nov 7;264(17):2245-50. JAMA. 1990. PMID: 2120481

5

Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?

Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. Hayashi Y, et al. Among authors: weiss re. J Clin Endocrinol Metab. 1995 Nov;80(11):3246-56. doi: 10.1210/jcem.80.11.7593433. J Clin Endocrinol Metab. 1995. PMID: 7593433

6

Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.

Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y. Refetoff S, et al. Among authors: weiss re. Thyroid. 1994 Fall;4(3):249-54. doi: 10.1089/thy.1994.4.249. Thyroid. 1994. PMID: 7833659 Clinical Trial.

7

An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. Sunthornthepvarakul T, et al. Among authors: weiss re. Biochem Biophys Res Commun. 1994 Jul 29;202(2):781-7. doi: 10.1006/bbrc.1994.1998. Biochem Biophys Res Commun. 1994. PMID: 8048949

8

A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.

Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S. Weiss RE, et al. J Clin Endocrinol Metab. 1994 May;78(5):1253-6. doi: 10.1210/jcem.78.5.8175986. J Clin Endocrinol Metab. 1994. PMID: 8175986

9

Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.

Weiss RE, Stein MA, Duck SC, Chyna B, Phillips W, O'Brien T, Gutermuth L, Refetoff S. Weiss RE, et al. J Clin Endocrinol Metab. 1994 Jun;78(6):1525-8. doi: 10.1210/jcem.78.6.8200958. J Clin Endocrinol Metab. 1994. PMID: 8200958

10

The syndromes of resistance to thyroid hormone.

Refetoff S, Weiss RE, Usala SJ. Refetoff S, et al. Among authors: weiss re. Endocr Rev. 1993 Jun;14(3):348-99. doi: 10.1210/edrv-14-3-348. Endocr Rev. 1993. PMID: 8319599 Review. No abstract available.

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