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1

An Identical Missense Mutation in the Albumin Gene Results in Familial Dysalbuminemic Hyperthyroxinemia in Eight Unrelated Families

T. Sunthornthepvarakul, P. Angkeow, R.E. Weiss, Y. Hayashi, S. Refetoff

Journal:

Biochemical and Biophysical Research Communications

Year:

1994

File:

PDF, 434 KB

1994

2

Resistance to Thyrotropin Caused by Mutations in the Thyrotropin-Receptor Gene

Sunthornthepvarakul, Thongkum, Gottschalk, Michael E., Hayashi, Yoshitaka, Refetoff, Samuel

Journal:

Boston Medical and Surgical Journal

Year:

1995

Language:

english

File:

PDF, 166 KB

english, 1995

3

A Novel Mutation of the Signal Peptide of the Preproparathyroid Hormone Gene Associated with Autosomal Recessive Familial Isolated Hypoparathyroidism 1

Sunthornthepvarakul, Thongkum, Churesigaew, Sunchai, Ngowngarmratana, Supunnee

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 411 KB

english, 1999

4

Mutation in the Thyroid Hormone Receptor β Gene (A317T) in a Thai Subject with Resistance to Thyroid Hormone

SUNTHORNTHEPVARAKUL, THONGKUM, ANGSUSINGHA, KITTI, LIKITMASKUL, SUPAWADEE, NGOWNGARMRATANA, SUPUNNEE, REFETOFF, SAMUEL

Journal:

Year:

1997

Language:

english

File:

PDF, 321 KB

english, 1997

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, R E, Sarne, D H, Yen, P M, Sunthornthepvarakul, T, Marcocci, C, Chin, W W, Refetoff, S

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1995

Language:

english

File:

PDF, 1.65 MB

english, 1995

6

Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

Weiss, R E, Sunthornthepvarakul, T, Angkeow, P, Marcus-Bagley, D, Cox, N, Alper, C A, Refetoff, S

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1995

Language:

english

File:

PDF, 1.27 MB

english, 1995

7

Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.

Hayashi, Y, Mori, Y, Janssen, O E, Sunthornthepvarakul, T, Weiss, R E, Takeda, K, Weinberg, M, Seo, H, Bell, G I, Refetoff, S

Journal:

Molecular Endocrinology

Year:

1993

Language:

english

File:

PDF, 1.58 MB

english, 1993

8

Polymorphism of a Variant Human Thyrotropin Receptor (hTSHR) Gene

SUNTHORNTHEPVARAKUL, THONGKUM, HAYASHI, YOSHITAKA, REFETOFF, SAMUEL

Journal:

Year:

1994

Language:

english

File:

PDF, 776 KB

english, 1994

9

Familial Dysalbuminemic Hypertriiodothyroninemia: A New, Dominantly Inherited Albumin Defect 1

T. Sunthornthepvarakul, S. Likitmaskul, S. Ngowngarmratana, K. Angsusingha, S. Kitvitayasak, N. H. Scherberg, S. Refetoff

Year:

1998

Language:

english

File:

PDF, 213 KB

english, 1998

10

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

Weiss, R E, Chyna, B, Duell, P B, Hayashi, Y, Sunthornthepvarakul, T, Refetoff, S

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1994

Language:

english

File:

PDF, 684 KB

english, 1994

11

A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.

Refetoff, S, Marinov, V S, Tunca, H, Byrne, M M, Sunthornthepvarakul, T, Weiss, R E

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1996

Language:

english

File:

PDF, 1.27 MB

english, 1996

12

Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.

Rosenthal, I M, Refetoff, S, Rich, B, Barnes, R B, Sunthornthepvarakul, T, Parma, J, Rosenfield, R L

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1996

Language:

english

File:

PDF, 962 KB

english, 1996

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