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Results: 1-14 |
Results: 14
FAMILIAL DYSALBUMINEMIC HYPERTRIIODOTHYRONINEMIA - A NEW, DOMINANTLY INHERITED ALBUMIN DEFECT
Authors: SUNTHORNTHEPVARAKUL T LIKITMASKUL S NGOWNGARMRATANA S ANGSUSINGHA K KITVITAYASAK S SCHERBERG NH REFETOFF S
Citation: T. Sunthornthepvarakul et al., FAMILIAL DYSALBUMINEMIC HYPERTRIIODOTHYRONINEMIA - A NEW, DOMINANTLY INHERITED ALBUMIN DEFECT, The Journal of clinical endocrinology and metabolism, 83(5), 1998, pp. 1448-1454
MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (A317T) IN A THAI SUBJECT WITH RESISTANCE TO THYROID-HORMONE
Authors: SUNTHORNTHEPVARAKUL T ANGSUSINGHA K LIKITMASKUL S NGOWNGARMRATANA S REFETOFF S
Citation: T. Sunthornthepvarakul et al., MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (A317T) IN A THAI SUBJECT WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 7(6), 1997, pp. 905-907
CLINICAL-MOLECULAR CORRELATES IN A MOTHER AND 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING-HORMONE (LH) RECEPTOR (LHR)
Authors: ROSENFIELD RL ROSENTHAL IM REFETOFF S RICH BH BARNES RB SUNTHORNTHEPVARAKUL T PARMA J
Citation: Rl. Rosenfield et al., CLINICAL-MOLECULAR CORRELATES IN A MOTHER AND 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING-HORMONE (LH) RECEPTOR (LHR), Pediatric research, 39(4), 1996, pp. 569-569
A NEW FAMILY WITH HYPERTHYROXINEMIA CAUSED BY TRANSTHYRETIN VAL(109) MISDIAGNOSED AS THYROTOXICOSIS AND RESISTANCE TO THYROID-HORMONE - A CLINICAL RESEARCH-CENTER STUDY
Authors: REFETOFF S MARINOV VSZ TUNCA H BYRNE MM SUNTHORNTHEPVARAKUL T WEISS RE
Citation: S. Refetoff et al., A NEW FAMILY WITH HYPERTHYROXINEMIA CAUSED BY TRANSTHYRETIN VAL(109) MISDIAGNOSED AS THYROTOXICOSIS AND RESISTANCE TO THYROID-HORMONE - A CLINICAL RESEARCH-CENTER STUDY, The Journal of clinical endocrinology and metabolism, 81(9), 1996, pp. 3335-3340
RESPONSE TO CHALLENGE WITH GONADOTROPIN-RELEASING-HORMONE AGONIST IN A MOTHER AND HER 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR - A CLINICAL RESEARCH-CENTER STUDY
Authors: ROSENTHAL IM REFETOFF S RICH B BARNES RB SUNTHORNTHEPVARAKUL T PARMA J ROSENFIELD RL
Citation: Im. Rosenthal et al., RESPONSE TO CHALLENGE WITH GONADOTROPIN-RELEASING-HORMONE AGONIST IN A MOTHER AND HER 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR - A CLINICAL RESEARCH-CENTER STUDY, The Journal of clinical endocrinology and metabolism, 81(10), 1996, pp. 3802-3806
BRIEF REPORT - RESISTANCE TO THYROTROPIN CAUSED BY MUTATIONS IN THE THYROTROPIN-RECEPTOR GENE
Authors: SUNTHORNTHEPVARAKUL T GOTTSCHALK ME HAYASHI Y REFETOFF S
Citation: T. Sunthornthepvarakul et al., BRIEF REPORT - RESISTANCE TO THYROTROPIN CAUSED BY MUTATIONS IN THE THYROTROPIN-RECEPTOR GENE, The New England journal of medicine, 332(3), 1995, pp. 155-160
THYROID-FUNCTION TESTS AND CHARACTERIZATION OF THYROXINE-BINDING GLOBULIN IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Authors: MACCHIA PE HARRISON HH SCHERBERG NH SUNTHORNTHEPVARAKUL T JAEKEN J REFETOFF S
Citation: Pe. Macchia et al., THYROID-FUNCTION TESTS AND CHARACTERIZATION OF THYROXINE-BINDING GLOBULIN IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I, The Journal of clinical endocrinology and metabolism, 80(12), 1995, pp. 3744-3749
DO CLINICAL MANIFESTATIONS OF RESISTANCE TO THYROID-HORMONE CORRELATEWITH THE FUNCTIONAL ALTERATION OF THE CORRESPONDING MUTANT THYROID HORMONE-BETA RECEPTORS
Authors: HAYASHI Y WEISS RE SARNE DH YEN PM SUNTHORNTHEPVARAKUL T MARCOCCI C CHIN CW REFETOFF S
Citation: Y. Hayashi et al., DO CLINICAL MANIFESTATIONS OF RESISTANCE TO THYROID-HORMONE CORRELATEWITH THE FUNCTIONAL ALTERATION OF THE CORRESPONDING MUTANT THYROID HORMONE-BETA RECEPTORS, The Journal of clinical endocrinology and metabolism, 80(11), 1995, pp. 3246-3256
LINKAGE OF FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA TO THE ALBUMIN GENE IN A LARGE AMISH KINDRED
Authors: WEISS RE SUNTHORNTHEPVARAKUL T ANGKEOW P MARCUSBAGLEY D COX N ALPER CA REFETOFF S
Citation: Re. Weiss et al., LINKAGE OF FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA TO THE ALBUMIN GENE IN A LARGE AMISH KINDRED, The Journal of clinical endocrinology and metabolism, 80(1), 1995, pp. 116-121
POLYMORPHISM OF A VARIANT HUMAN THYROTROPIN RECEPTOR (HTSHR) GENE
Authors: SUNTHORNTHEPVARAKUL T HAYASHI Y REFETOFF S
Citation: T. Sunthornthepvarakul et al., POLYMORPHISM OF A VARIANT HUMAN THYROTROPIN RECEPTOR (HTSHR) GENE, Thyroid, 4(2), 1994, pp. 147-149
MUTATIONS OF CPG DINUCLEOTIDES LOCATED IN THE TRIIODOTHYRONINE (T-3)-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
Authors: HAYASHI Y SUNTHORNTHEPVARAKUL T REFETOFF S
Citation: Y. Hayashi et al., MUTATIONS OF CPG DINUCLEOTIDES LOCATED IN THE TRIIODOTHYRONINE (T-3)-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, The Journal of clinical investigation, 94(2), 1994, pp. 607-615
A NEW POINT MUTATION (C446R) IN THE THYROID-HORMONE RECEPTOR-BETA GENE OF A FAMILY WITH RESISTANCE TO THYROID-HORMONE
Authors: WEISS RE CHYNA B DUELL PB HAYASHI Y SUNTHORNTHEPVARAKUL T REFETOFF S
Citation: Re. Weiss et al., A NEW POINT MUTATION (C446R) IN THE THYROID-HORMONE RECEPTOR-BETA GENE OF A FAMILY WITH RESISTANCE TO THYROID-HORMONE, The Journal of clinical endocrinology and metabolism, 78(5), 1994, pp. 1253-1256
AN IDENTICAL MISSENSE MUTATION IN THE ALBUMIN GENE RESULTS IN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA IN 8 UNRELATED FAMILIES
Authors: SUNTHORNTHEPVARAKUL T ANGKEOW P WEISS RE HAYASHI Y REFETOFF S
Citation: T. Sunthornthepvarakul et al., AN IDENTICAL MISSENSE MUTATION IN THE ALBUMIN GENE RESULTS IN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA IN 8 UNRELATED FAMILIES, Biochemical and biophysical research communications, 202(2), 1994, pp. 781-787
HUMAN THYROXINE-BINDING GLOBULIN GENE - COMPLETE SEQUENCE AND TRANSCRIPTIONAL REGULATION
Authors: HAYASHI Y MORI Y JANSSEN OE SUNTHORNTHEPVARAKUL T WEISS RE TAKEDA K WEINBERG M SEO H BELL GI REFETOFF S
Citation: Y. Hayashi et al., HUMAN THYROXINE-BINDING GLOBULIN GENE - COMPLETE SEQUENCE AND TRANSCRIPTIONAL REGULATION, Molecular endocrinology, 7(8), 1993, pp. 1049-1060
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