T Sunthornthepvarakul

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

T Sunthornthepvarakul, Michael Gottschalk, Yoshitaka Hayashi et al. · New England Journal of Medicine · 1995 · 347 citations · Full text

Medicine, Endocrinology, Genetics +17

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

T Sunthornthepvarakul, S Churesigaew, S Ngowngarmratana · The Journal of Clinical Endocrinology & Metabolism · 1999 · 124 citations · Full text

Medicine, Endocrinology, Genetics +17

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

Yoshitaka Hayashi, Roy E. Weiss, David Sarne et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 99 citations

Medicine, Endocrinology, Endocrine Genetics +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.

Ira M. Rosenthal, Samuel Refetoff, B E Rich et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 70 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.

Yoshitaka Hayashi, T Sunthornthepvarakul, Samuel Refetoff · Journal of Clinical Investigation · 1994 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +17