Authors:
TAKEDA K
IYOTA K
MORI Y
TAMURA Y
SUEHIRO T
KUBO Y
REFETOFF S
HASHIMOTO K
Citation: K. Takeda et al., GENE SCREENING IN JAPANESE FAMILIES WITH COMPLETE DEFICIENCY OF THYROXINE-BINDING GLOBULIN DEMONSTRATES THAT A NUCLEOTIDE DELETION AT CODON-352 MAY BE A RACE-SPECIFIC MUTATION, Clinical endocrinology, 40(2), 1994, pp. 221-226
Citation: S. Refetoff, HOW CLINICAL OBSERVATIONS OF A CONGENITAL DISEASE CAN BE TRANSLATED IN TERMS OF MOLECULAR-BIOLOGY, Perspectives in biology and medicine, 37(3), 1994, pp. 315-326
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
Authors:
WEISS RE
STEIN MA
DUCK SC
CHYNA B
PHILLIPS W
OBRIEN T
GUTERMUTH L
REFETOFF S
Citation: Re. Weiss et al., LOW INTELLIGENCE BUT NOT ATTENTION-DEFICIT HYPERACTIVITY DISORDER IS ASSOCIATED WITH RESISTANCE TO THYROID-HORMONE CAUSED BY MUTATION R316HIN THE THYROID-HORMONE RECEPTOR-BETA GENE, The Journal of clinical endocrinology and metabolism, 78(6), 1994, pp. 1525-1528
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
Authors:
CHATTERJEE VKK
BECKPECCOZ P
CHIN WW
DEGROOT LJ
JAMESON JL
NAKAMURA H
REFETOFF S
USALA SJ
WEINTRAUB BD
Citation: Vkk. Chatterjee et al., NOMENCLATURE OF THYROID-HORMONE RECEPTOR BETA-GENE MUTATIONS IN RESISTANCE TO THYROID-HORMONE - CONSENSUS STATEMENT FROM THE FIRST WORKSHOPON THYROID-HORMONE RESISTANCE, JULY 10-11, 1993, CAMBRIDGE, UNITED-KINGDOM, The Journal of clinical endocrinology and metabolism, 78(4), 1994, pp. 990-993
Authors:
HAYASHI Y
DEPAOLI AM
BURANT CF
REFETOFF S
Citation: Y. Hayashi et al., EXPRESSION OF A THYROID HORMONE-RESPONSIVE RECOMBINANT GENE INTRODUCED INTO ADULT MICE LIVERS BY REPLICATION-DEFECTIVE ADENOVIRUS CAN BE REGULATED BY ENDOGENOUS THYROID-HORMONE RECEPTOR, The Journal of biological chemistry, 269(39), 1994, pp. 23872-23875
Authors:
TORRES B
MENKE J
KLANN R
REFETOFF S
BERCU B
USALA S
Citation: B. Torres et al., THE THYROID-HORMONE RECEPTOR-ALPHA-1 MAY HAVE A SPECIFIC ROLE IN GROWTH - THYROID-HORMONE DEPENDENT GROWTH OF FIBROBLASTS FROM A PATIENT WITH HOMOZYGOUS RECEPTOR-BETA MUTATION BUT NOT HOMOZYGOUS RECEPTOR-BETA DELETION, Clinical research, 42(2), 1994, pp. 10000208-10000208
Citation: Y. Hayashi et al., IN-VIVO GENE-TRANSFER THAT CAN BE ENDOGENOUSLY REGULATED BY NORMAL MECHANISMS, Clinical research, 42(2), 1994, pp. 10000208-10000208
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
Authors:
VANCAUTER E
STURIS J
BYRNE MM
BLACKMAN JD
LEPROULT R
OFEK G
LHERMITEBALERIAUX M
REFETOFF S
TUREK FW
VANREETH O
Citation: E. Vancauter et al., DEMONSTRATION OF RAPID LIGHT-INDUCED ADVANCES AND DELAYS OF THE HUMANCIRCADIAN CLOCK USING HORMONAL PHASE MARKERS, The American journal of physiology, 266(6), 1994, pp. 50000953-50000963
Authors:
VANREETH O
STURIS J
BYRNE MM
BLACKMAN JD
LHERMITEBALERIAUX M
LEPROULT R
OLINER C
REFETOFF S
TUREK FW
VANCAUTER E
Citation: O. Vanreeth et al., NOCTURNAL EXERCISE PHASE DELAYS CIRCADIAN-RHYTHMS OF MELATONIN AND THYROTROPIN SECRETION IN NORMAL MEN, The American journal of physiology, 266(6), 1994, pp. 50000964-50000974
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
Authors:
VANCAUTER E
STURIS J
BYRNE MM
BLACKMAN JD
SCHERBERG NH
LEPROULT R
REFETOFF S
VANREETH O
Citation: E. Vancauter et al., PRELIMINARY STUDIES ON THE IMMEDIATE PHASE-SHIFTING EFFECTS OF LIGHT AND EXERCISE ON THE HUMAN CIRCADIAN CLOCK, Journal of biological rhythms, 8, 1993, pp. 190000099-190000108
Citation: Re. Weiss et al., IDENTICAL MUTATIONS IN UNRELATED FAMILIES WITH GENERALIZED RESISTANCETO THYROID-HORMONE OCCUR IN CYTOSINE GUANINE-RICH AREAS OF THE THYROID-HORMONE RECEPTOR-BETA GENE - ANALYSIS OF 15 FAMILIES, The Journal of clinical investigation, 91(6), 1993, pp. 2408-2415
Authors:
HAYASHI Y
JANSSEN OE
WEISS RE
MURATA Y
SEO H
REFETOFF S
Citation: Y. Hayashi et al., THE RELATIVE EXPRESSION OF MUTANT AND NORMAL THYROID-HORMONE RECEPTORGENES IN PATIENTS WITH GENERALIZED RESISTANCE TO THYROID-HORMONE DETERMINED BY ESTIMATION OF THEIR SPECIFIC MESSENGER-RIBONUCLEIC-ACID PRODUCTS, The Journal of clinical endocrinology and metabolism, 76(1), 1993, pp. 64-69
Authors:
WEISS RE
MARCOCCI C
BRUNOBOSSIO G
REFETOFF S
Citation: Re. Weiss et al., MULTIPLE GENETIC-FACTORS IN THE HETEROGENEITY OF THYROID-HORMONE RESISTANCE, The Journal of clinical endocrinology and metabolism, 76(1), 1993, pp. 257-259