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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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