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Results: 1-25 | 26-50 | 51-71
Results: 1-25/71
COMPLETE DEFICIENCY OF THYROXINE-BINDING GLOBULIN (TBG-CD BUFFALO) CAUSED BY A NEW NONSENSE MUTATION IN THE THYROXINE-BINDING GLOBULIN GENE
Authors: CARVALHO GA WEISS RE VLADUTIU AO REFETOFF S
Citation: Ga. Carvalho et al., COMPLETE DEFICIENCY OF THYROXINE-BINDING GLOBULIN (TBG-CD BUFFALO) CAUSED BY A NEW NONSENSE MUTATION IN THE THYROXINE-BINDING GLOBULIN GENE, Thyroid, 8(2), 1998, pp. 161-165
CONGENITAL HYPOTHYROIDISM DUE TO MUTATIONS IN THE SODIUM IODIDE SYMPORTER - IDENTIFICATION OF A NONSENSE MUTATION PRODUCING A DOWNSTREAM CRYPTIC 3'-SPLICE-SITE/
Authors: POHLENZ J ROSENTHAL IM WEISS RE JHIANG SM BURANT C REFETOFF S
Citation: J. Pohlenz et al., CONGENITAL HYPOTHYROIDISM DUE TO MUTATIONS IN THE SODIUM IODIDE SYMPORTER - IDENTIFICATION OF A NONSENSE MUTATION PRODUCING A DOWNSTREAM CRYPTIC 3'-SPLICE-SITE/, The Journal of clinical investigation, 101(5), 1998, pp. 1028-1035
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
COMPLETE THYROXINE-BINDING GLOBULIN (TBG) DEFICIENCY PRODUCED BY A MUTATION IN ACCEPTOR SPLICE-SITE CAUSING FRAMESHIFT AND EARLY TERMINATION OF TRANSLATION (TBG-KANKAKEE)
Authors: CARVALHO GA WEISS RE REFETOFF S
Citation: Ga. Carvalho et al., COMPLETE THYROXINE-BINDING GLOBULIN (TBG) DEFICIENCY PRODUCED BY A MUTATION IN ACCEPTOR SPLICE-SITE CAUSING FRAMESHIFT AND EARLY TERMINATION OF TRANSLATION (TBG-KANKAKEE), The Journal of clinical endocrinology and metabolism, 83(10), 1998, pp. 3604-3608
THYROID-HORMONE ACTION ON LIVER, HEART, AND ENERGY-EXPENDITURE IN THYROID-HORMONE RECEPTOR BETA-DEFICIENT MICE
Authors: WEISS RE MURATA Y CUA K HAYASHI Y SEO H REFETOFF S
Citation: Re. Weiss et al., THYROID-HORMONE ACTION ON LIVER, HEART, AND ENERGY-EXPENDITURE IN THYROID-HORMONE RECEPTOR BETA-DEFICIENT MICE, Endocrinology, 139(12), 1998, pp. 4945-4952
SELECTIVE PITUITARY RESISTANCE TO THYROID-HORMONE PRODUCED BY EXPRESSION OF A MUTANT THYROID-HORMONE RECEPTOR-BETA GENE IN THE PITUITARY-GLAND OF TRANSGENIC MICE
Authors: HAYASHI Y XIE J WEISS RE POHLENZ J REFETOFF S
Citation: Y. Hayashi et al., SELECTIVE PITUITARY RESISTANCE TO THYROID-HORMONE PRODUCED BY EXPRESSION OF A MUTANT THYROID-HORMONE RECEPTOR-BETA GENE IN THE PITUITARY-GLAND OF TRANSGENIC MICE, Biochemical and biophysical research communications, 245(1), 1998, pp. 204-210
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
A NOVEL POINT MUTATION OF THYROID-HORMONE RECEPTOR-BETA GENE IN A FAMILY WITH RESISTANCE TO THYROID-HORMONE
Authors: NAGASHIMA T YAGI H NAGASHIMA K SAKURAI A ONIGATA K NOMURA Y MORIKAWA A MATAZOW G COUCH RM WEISS RE REFETOFF S
Citation: T. Nagashima et al., A NOVEL POINT MUTATION OF THYROID-HORMONE RECEPTOR-BETA GENE IN A FAMILY WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 7(5), 1997, pp. 771-773
PROBING THE CAUSE OF THYROID DYSGENESIS
Authors: ABRAMOWICZ MJ VASSART G REFETOFF S
Citation: Mj. Abramowicz et al., PROBING THE CAUSE OF THYROID DYSGENESIS, Thyroid, 7(3), 1997, pp. 325-326
BEHAVIORAL-EFFECTS OF LIOTHYRONINE (L-T-3) IN CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER IN THE PRESENCE AND ABSENCE OF RESISTANCE TO THYROID-HORMONE
Authors: WEISS RE STEIN MA REFETOFF S
Citation: Re. Weiss et al., BEHAVIORAL-EFFECTS OF LIOTHYRONINE (L-T-3) IN CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER IN THE PRESENCE AND ABSENCE OF RESISTANCE TO THYROID-HORMONE, Thyroid, 7(3), 1997, pp. 389-393
THYROID-DYSFUNCTION IS NOT ASSOCIATED WITH ALTERATIONS IN SERUM LEPTIN LEVELS
Authors: SREENAN S CARO JF REFETOFF S
Citation: S. Sreenan et al., THYROID-DYSFUNCTION IS NOT ASSOCIATED WITH ALTERATIONS IN SERUM LEPTIN LEVELS, Thyroid, 7(3), 1997, pp. 407-409
PHENOTYPE DIFFERENCES OF RESISTANCE TO THYROID-HORMONE IN 2 UNRELATEDFAMILIES WITH AN IDENTICAL MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (R320C)
Authors: WEISS RE TUNCA H KNAPPLE WL FAAS FH REFETOFF S
Citation: Re. Weiss et al., PHENOTYPE DIFFERENCES OF RESISTANCE TO THYROID-HORMONE IN 2 UNRELATEDFAMILIES WITH AN IDENTICAL MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (R320C), Thyroid, 7(1), 1997, pp. 35-38
MODIFICATION OF THYROID-HORMONE AND 9-CIS RETINOIC ACID SIGNALING BY OVEREXPRESSION OF THEIR COGNATE RECEPTORS USING ADENOVIRAL VECTOR
Authors: HAYASHI Y YAMAGUCHI S POHLENZ J MURATA Y REFETOFF S SEO H
Citation: Y. Hayashi et al., MODIFICATION OF THYROID-HORMONE AND 9-CIS RETINOIC ACID SIGNALING BY OVEREXPRESSION OF THEIR COGNATE RECEPTORS USING ADENOVIRAL VECTOR, Molecular and cellular endocrinology, 131(1), 1997, pp. 59-66
RESISTANCE TO THYROID-HORMONE CAUSED BY 2 MUTANT THYROID-HORMONE RECEPTOR-BETA, R243Q AND R243W, WITH MARKED IMPAIRMENT OF FUNCTION THAT CANNOT BE EXPLAINED BY ALTERED IN-VITRO 3,5,3'-TRIIODOTHYROININE BINDING-AFFINITY
Authors: YAGI H POHLENZ J HAYASHI Y SAKURAI A REFETOFF S
Citation: H. Yagi et al., RESISTANCE TO THYROID-HORMONE CAUSED BY 2 MUTANT THYROID-HORMONE RECEPTOR-BETA, R243Q AND R243W, WITH MARKED IMPAIRMENT OF FUNCTION THAT CANNOT BE EXPLAINED BY ALTERED IN-VITRO 3,5,3'-TRIIODOTHYROININE BINDING-AFFINITY, The Journal of clinical endocrinology and metabolism, 82(5), 1997, pp. 1608-1614
RESISTANCE TO THYROTROPIN (TSH) IN 3 FAMILIES IS NOT ASSOCIATED WITH MUTATIONS IN THE TSH RECEPTOR OR TSH
Authors: XIE J PANNAIN S POHLENZ J WEISS RE MOLTZ K MORLOT M ASTERIA C PERSANI L BECKPECCOZ P PARMA J VASSART G REFETOFF S
Citation: J. Xie et al., RESISTANCE TO THYROTROPIN (TSH) IN 3 FAMILIES IS NOT ASSOCIATED WITH MUTATIONS IN THE TSH RECEPTOR OR TSH, The Journal of clinical endocrinology and metabolism, 82(12), 1997, pp. 3933-3940
THYROTROPIN REGULATION BY THYROID-HORMONE IN THYROID-HORMONE RECEPTORBETA-DEFICIENT MICE
Authors: WEISS RE FORREST D POHLENZ J CUA K CURRAN T REFETOFF S
Citation: Re. Weiss et al., THYROTROPIN REGULATION BY THYROID-HORMONE IN THYROID-HORMONE RECEPTORBETA-DEFICIENT MICE, Endocrinology, 138(9), 1997, pp. 3624-3629
HYPOTHYROIDISM IN A BRAZILIAN KINDRED DUE TO IODIDE TRAPPING DEFECT CAUSED BY A HOMOZYGOUS MUTATION IN THE SODIUM IODIDE SYMPORTER GENE/
Authors: POHLENZ J MEDEIROSNETO G GROSS JL SILVEIRO SP KNOBEL M REFETOFF S
Citation: J. Pohlenz et al., HYPOTHYROIDISM IN A BRAZILIAN KINDRED DUE TO IODIDE TRAPPING DEFECT CAUSED BY A HOMOZYGOUS MUTATION IN THE SODIUM IODIDE SYMPORTER GENE/, Biochemical and biophysical research communications, 240(2), 1997, pp. 488-491
MUTATION IN THE THYROID-HORMONE RECEPTOR (TR) BETA-GENE (M313T) NOT PREVIOUSLY REPORTED IN 2 UNRELATED FAMILIES WITH RESISTANCE TO THYROID-HORMONE (RTH)
Authors: REFETOFF S TUNCA H WILANSKY DL MUSSEY VC WEISS RE
Citation: S. Refetoff et al., MUTATION IN THE THYROID-HORMONE RECEPTOR (TR) BETA-GENE (M313T) NOT PREVIOUSLY REPORTED IN 2 UNRELATED FAMILIES WITH RESISTANCE TO THYROID-HORMONE (RTH), Thyroid, 6(6), 1996, pp. 571-573
EVALUATION OF PITUITARY AND PERIPHERAL TISSUE MARKERS OF THYROID-HORMONE ACTION IN AN IRANIAN FAMILY WITH RESISTANCE TO THYROID-HORMONE
Authors: GHAZI AAM REFETOFF S
Citation: Aam. Ghazi et S. Refetoff, EVALUATION OF PITUITARY AND PERIPHERAL TISSUE MARKERS OF THYROID-HORMONE ACTION IN AN IRANIAN FAMILY WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 6(6), 1996, pp. 589-593
A NEW MUTATION IN THE THYROID-HORMONE RECEPTOR (TR) BETA-GENE (V458A)IN A FAMILY WITH RESISTANCE TO THYROID-HORMONE (RTH)
Authors: WEISS RE TUNCA H GERSTEIN HC REFETOFF S
Citation: Re. Weiss et al., A NEW MUTATION IN THE THYROID-HORMONE RECEPTOR (TR) BETA-GENE (V458A)IN A FAMILY WITH RESISTANCE TO THYROID-HORMONE (RTH), Thyroid, 6(4), 1996, pp. 311-312
EXPRESSION OF THYROID PEROXIDASE IN EBV-TRANSFORMED B-CELL LINES USING ADENOVIRUS
Authors: HIDAKA Y HAYASHI Y FISFALEN ME SUZUKI S TAKEDA T REFETOFF S DEGROOT LJ
Citation: Y. Hidaka et al., EXPRESSION OF THYROID PEROXIDASE IN EBV-TRANSFORMED B-CELL LINES USING ADENOVIRUS, Thyroid, 6(1), 1996, pp. 23-28
EFFECT OF THYROID-HORMONE ON GROWTH - LESSONS FROM THE SYNDROME OF RESISTANCE TO THYROID-HORMONE
Authors: WEISS RE REFETOFF S
Citation: Re. Weiss et S. Refetoff, EFFECT OF THYROID-HORMONE ON GROWTH - LESSONS FROM THE SYNDROME OF RESISTANCE TO THYROID-HORMONE, Endocrinology and metabolism clinics of North America, 25(3), 1996, pp. 719
A MOUSE MODEL OF RESISTANCE TO THYROID-HORMONE PRODUCED BY SOMATIC GENE-TRANSFER OF A MUTANT THYROID-HORMONE RECEPTOR
Authors: HAYASHI Y MANGOURA D REFETOFF S
Citation: Y. Hayashi et al., A MOUSE MODEL OF RESISTANCE TO THYROID-HORMONE PRODUCED BY SOMATIC GENE-TRANSFER OF A MUTANT THYROID-HORMONE RECEPTOR, Molecular endocrinology, 10(1), 1996, pp. 100-106
THYROXINE-BINDING GLOBULIN - ORGANIZATION OF THE GENE AND VARIANTS (VOL 45, PG 128, 1996)
Authors: REFETOFF S
Citation: S. Refetoff, THYROXINE-BINDING GLOBULIN - ORGANIZATION OF THE GENE AND VARIANTS (VOL 45, PG 128, 1996), Hormone research, 46(1), 1996, pp. 37-37
THYROXINE-BINDING GLOBULIN - ORGANIZATION OF THE GENE AND VARIANTS
Authors: REFETOFF S MURATA Y MORI Y JANSSEN OE TAKEDA K HAYASHI Y
Citation: S. Refetoff et al., THYROXINE-BINDING GLOBULIN - ORGANIZATION OF THE GENE AND VARIANTS, Hormone research, 45(3-5), 1996, pp. 128-138
Risultati: 1-25 | 26-50 | 51-71