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51

Suggested Guidelines for Preparation of Brief Reports on New Cases of Resistance to Thyroid Hormone (RTH)

Refetoff, Samuel

Journal:

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

52

Consecutive Mutational Events in a TSHR Allele of Arab Families with Resistance to Thyroid Stimulating Hormone

Sriphrapradang, Chutintorn, German, Alina, Dumitrescu, Alexandra M., Refetoff, Samuel

Journal:

Year:

2012

Language:

english

File:

PDF, 491 KB

english, 2012

53

Mosaicism of a Thyroid Hormone Receptor-β Gene Mutation in Resistance to Thyroid Hormone

Mamanasiri, Sunee, Yesil, Sena, Dumitrescu, Alexandra M., Liao, Xiao-Hui, Demir, Tevfik, Weiss, Roy E., Refetoff, Samuel

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 304 KB

english, 2006

54

Inherited defects of thyroxine-binding proteins

Pappa, Theodora, Ferrara, Alfonso Massimiliano, Refetoff, Samuel

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 1.17 MB

english, 2015

55

Peroxidase Defect in Congenital Goiter with Complete Organification Block

NIEPOMNISZCZE, HUGO, CASTELLS, SALVADOR, GROOT, LESLIE J. DE, REFETOFF, SAMUEL, KIM, OK SOON, RAPOPORT, BASIL, HATI, RATHA

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1973

Language:

english

File:

PDF, 1.21 MB

english, 1973

56

The Effects of Low Doses of Depot Estradiol and Testosterone in Teenagers with Ovarian Failure and Turner's Syndrome

ROSENFIELD, ROBERT L., FANG, VICTOR S., DUPON, CARYN, KIM, MOON H., REFETOFF, SAMUEL

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1973

Language:

english

File:

PDF, 772 KB

english, 1973

57

Effects of “Jet Lag” on Hormonal Patterns. IV. Time Shifts Increase Growth Hormone Release*

GOLSTEIN, JACQUELINE, CAUTER, EVE VAN, DÉSIR, DANIEL, NOËL, PIERRE, SPIRE, JEAN-PAUL, REFETOFF, SAMUEL, COPINSCHI, GEORGES

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1983

Language:

english

File:

PDF, 1.04 MB

english, 1983

58

Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck, Aviva Mimouni-Bloch, Vincent Vatin, Gilbert Vassart, Philippe Froguel, Samuel Refetoff

Journal:

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

59

Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone

Samuel Refetoff, Leslie J. DeGroot, Bernard Benard, Loren T. DeWind

Journal:

Year:

1972

Language:

english

File:

PDF, 2.44 MB

english, 1972

60

[Part 2: Biological Sciences] || Ontogenetic Patterns of Thyrotropin-Releasing Hormone-Like Material in Rat Hypothalamus, Pancreas, and Retina: Selective Effect of Light Deprivation

Enio Martino, Hisao Seo, Ake Lernmark and Samuel Refetoff

Journal:

Proceedings of the National Academy of Sciences

Year:

1980

Language:

english

File:

PDF, 693 KB

english, 1980

61

A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

Kohn, Brenda, Grasberger, Helmut, Lam, Leslie L., Ferrara, Alfonso Massimiliano, Refetoff, Samuel

Journal:

Year:

2009

Language:

english

File:

PDF, 1.38 MB

english, 2009

62

Resistance to Thyroid Hormone Caused by a New Mutation (V336M) in the Thyroid Hormone Receptor β Gene

POHLENZ, JOACHIM, SCHÖNBERGER, WINFRIED, KOFFLER, THOMAS, REFETOFF, SAMUEL

Journal:

Year:

1999

Language:

english

File:

PDF, 988 KB

english, 1999

63

Thyroid Hormone-Regulated Mouse Cerebral Cortex Genes Are Differentially Dependent on the Source of the Hormone: A Study in Monocarboxylate Transporter-8- and Deiodinase-2-Deficient Mice

Morte, Beatriz, Ceballos, Ainhoa, Diez, Diego, Grijota-Martínez, Carmen, Dumitrescu, Alexandra M., Di Cosmo, Caterina, Galton, Valerie Anne, Refetoff, Samuel, Bernal, Juan

Journal:

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

64

Hematopoietic stem cells transplantation can normalize thyroid function in a cystinosis mouse model

Chevronnay, H.P. Gaide, Janssens, V., Van Der Smissen, P., Rocca, C., Liao, X.H., Refetoff, S., Pierreux, C.E., Cherqui, S., Courtoy, P.J.

Journal:

Year:

2016

Language:

english

File:

PDF, 2.24 MB

english, 2016

65

Changes in hepatic TRβ protein expression, lipogenic gene expression, and long chain acylcarnitine levels during chronic hyperthyroidism and T3 withdrawal in a mouse model

Ohba, Kenji, Sinha, Rohit Anthony, Leow, Melvin Khee-Shing, Iannucci, Liliana Felicia, Singh, Brijesh Kumar, Zhou, Jin, Kovalik, Jean-Paul, Liao, Xiao-Hui, Refetoff, Samuel, Sng, Judy Chia Ghee, Yen,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

66

Thyroid Hormone Receptor α and Regulation of Type 3 Deiodinase

Barca-Mayo, Olga, Liao, Xiao-Hui, Alonso, Manuela, Di Cosmo, Caterina, Hernandez, Arturo, Refetoff, Samuel, Weiss, Roy E.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

67

Letters to the Editor

Tyler, D. B., Schwartz, Theodore B., Refetoff, Samuel, Evans, E. A., Bentley, Ronald

Journal:

Perspectives in Biology and Medicine

Year:

1995

File:

PDF, 461 KB

1995

68

Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene

Parth Narendran, Joaquin Lado-Abeal, Lars C. Moeller, Samuel Refetoff

Journal:

Clinical Endocrinology

Year:

2003

Language:

english

File:

PDF, 144 KB

english, 2003

69

Reply

Samuel Refetoff

Journal:

The Journal of Pediatrics

Year:

1975

Language:

english

File:

PDF, 85 KB

english, 1975

70

Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination

Samuel Refetoff, Alexandra M. Dumitrescu

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 935 KB

english, 2007

71

Mutation in the Thyroid Hormone Receptor β Gene (A317T) in a Thai Subject with Resistance to Thyroid Hormone

SUNTHORNTHEPVARAKUL, THONGKUM, ANGSUSINGHA, KITTI, LIKITMASKUL, SUPAWADEE, NGOWNGARMRATANA, SUPUNNEE, REFETOFF, SAMUEL

Journal:

Year:

1997

Language:

english

File:

PDF, 321 KB

english, 1997

72

Thyroid Hormone Resistance

Weiss, R E, Refetoff, S

Journal:

Annual Review of Medicine

Year:

1992

Language:

english

File:

PDF, 548 KB

english, 1992

73

Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice

Franco, A. T., Malaguarnera, R., Refetoff, S., Liao, X.-H., Lundsmith, E., Kimura, S., Pritchard, C., Marais, R., Davies, T. F., Weinstein, L. S., Chen, M., Rosen, N., Ghossein, R., Knauf, J. A., Fagi

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.67 MB

english, 2011

74

Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess

Kim, J, Reutrakul, S, Davis, D., Kaplan, E., Refetoff, S

Journal:

European Journal of Endocrinology

Year:

2004

Language:

english

File:

PDF, 352 KB

english, 2004

75

A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications

Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel

Journal:

Year:

2015

Language:

english

File:

PDF, 359 KB

english, 2015

76

Cytosolic Action of Thyroid Hormone Leads to Induction of Hypoxia-Inducible Factor-1α and Glycolytic Genes

Moeller, Lars C., Dumitrescu, Alexandra M., Refetoff, Samuel

Journal:

Molecular Endocrinology

Year:

2005

Language:

english

File:

PDF, 269 KB

english, 2005

77

Familial Dysalbuminemic Hyperthyroxinemia in a Swiss Family Caused by a Mutant Albumin (R218P) Shows an Apparent Discrepancy between Serum Concentration and Affinity for Thyroxine 1

Pannain, Silvana, Feldman, Michael, Eiholzer, Urs, Weiss, Roy E., Scherberg, Neal H., Refetoff, Samuel

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 194 KB

english, 2000

78

Transient iodide trapping defect in Hashimoto's thyroiditis detected by the combination of radionuclide and fluorescent scanning

Barbato, A. L., Bekerman, C., Refetoff, S.

Journal:

British Journal of Radiology

Year:

1977

Language:

english

File:

PDF, 1.39 MB

english, 1977

79

The Effect of Dexamethasone on the 24-Hour Profiles of Adrenocorticotropin and Cortisol in Cushing's Syndrome*

REFETOFF, SAMUEL, VAN CAUTER, EVE, FANG, VICTOR S., LADERMAN, CAROL, GRAYBEAL, MICHAEL L., LANDAU, RICHARD L.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1985

Language:

english

File:

PDF, 913 KB

english, 1985

80

The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.

Hayashi, Y, Janssen, O E, Weiss, R E, Murata, Y, Seo, H, Refetoff, S

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1993

Language:

english

File:

PDF, 1.37 MB

english, 1993

81

Desensitization and Incomplete Recovery of Hepatic Target Genes After Chronic Thyroid Hormone Treatment and Withdrawal in Male Adult Mice

Ohba, Kenji, Leow, Melvin Khee-Shing, Singh, Brijesh Kumar, Sinha, Rohit Anthony, Lesmana, Ronny, Liao, Xiao-Hui, Ghosh, Sujoy, Refetoff, Samuel, Sng, Judy Chia Ghee, Yen, Paul Michael

Journal:

Year:

2016

Language:

english

File:

PDF, 718 KB

english, 2016

82

Nuclear Triiodothyronine-Binding Protein: Partial Characterization and Binding to Chromatin

Degroot, L. J., Refetoff, S., Strausser, J., Barsano, C.

Journal:

Proceedings of the National Academy of Sciences

Year:

1974

Language:

english

File:

PDF, 921 KB

english, 1974

83

Serum Antigens and Antibodies in the Diagnosis of Thyroid Cancer

DEGROOT, LESLIE J., HOYE, KATHLEEN, REFETOFF, SAMUEL, VAN HERLE, ANDRE J., ASTERIS, GEORGE T., ROCHMAN, HYMAN

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1977

File:

PDF, 433 KB

1977

84

Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations

Mimoto, M. S., Refetoff, S.

Journal:

Journal of Endocrinological Investigation

Year:

2019

File:

PDF, 961 KB

2019

85

Increased ALK activity induces a poorly differentiated thyroid carcinoma in mice

Kohler, Hannah, Latteyer, Soeren, Hoenes, Sebastian, Theurer, Sarah, Liao, Xiao-Hui, Christoph, Sandra, Zwanziger, Denise, Schulte, Johannes H, Kero, Jukka, Undeutsch, Hendrik, Refetoff, Samuel, Schmi

Journal:

Year:

2019

Language:

english

File:

PDF, 2.07 MB

english, 2019

86

Generation of functional thyroid from embryonic stem cells

Antonica, Francesco, Kasprzyk, Dominika Figini, Opitz, Robert, Iacovino, Michelina, Liao, Xiao-Hui, Dumitrescu, Alexandra Mihaela, Refetoff, Samuel, Peremans, Kathelijne, Manto, Mario, Kyba, Michael,

Journal:

Year:

2012

Language:

english

File:

PDF, 2.63 MB

english, 2012

87

Hypothyroidism in a Brazilian Kindred Due to Iodide Trapping Defect Caused by a Homozygous Mutation in the Sodium/Iodide Symporter Gene

Joachim Pohlenz, Geraldo Medeiros-Neto, Jorge L. Gross, Sandra P. Silveiro, Meyer Knobel, Samuel Refetoff

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 204 KB

english, 1997

88

MEASURMENT OF CIRCULATING THYROID MICROSOMAL ANTIBODIES BY THE TANNED RED CELL HAEMAGGLUTINATION TECHNIQUE: ITS USEFULNESS IN THE DIAGNOSIS OF AUTOIMMUNE THYROID DISEASES

NOBUYUKI AMINO, SWEN R. HAGEN, NOBORU YAMADA, SAMUEL REFETOFF

Journal:

Clinical Endocrinology

Year:

1976

Language:

english

File:

PDF, 748 KB

english, 1976

89

Nuclear receptors for thyroid hormone

Leslie J. DeGroot M.D.,S. Refetoff,J. Bernal…

Journal:

Journal of Endocrinological Investigation

Year:

1978

Language:

english

File:

PDF, 1.99 MB

english, 1978

90

Dominant Role of Thyrotropin-releasing Hormone in the Hypothalamic-Pituitary-Thyroid Axis

Nikrodhanond, A. A., Ortiga-Carvalho, T. M., Shibusawa, N., Hashimoto, K., Liao, X. H., Refetoff, S., Yamada, M., Mori, M., Wondisford, F. E.

Journal:

Journal of Biological Chemistry

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

91

Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells

Tonacchera, M, Agretti, P, Ceccarini, G, Lenza, R, Refetoff, S, Santini, F, Pinchera, A, Chiovato, L, Vitti, P

Journal:

European Journal of Endocrinology

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

92

Resistenz gegen TSH/Resistance to Thyrotropin

Janssen, O. E., Quadbeck, Beate, Refetoff, S.

Journal:

Laboratoriums Medizin

Year:

2003

File:

PDF, 225 KB

2003

93

Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart

Mizuno, Y, Kanou, Y, Rogatcheva, M, Imai, T, Refetoff, S, Seo, H, Murata, Y

Journal:

European Journal of Endocrinology

Year:

2004

Language:

english

File:

PDF, 253 KB

english, 2004

94

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency

Ferrara, Alfonso Massimiliano, Liao, Xiao-Hui, Ye, Honggang, Weiss, Roy E., Dumitrescu, Alexandra M., Refetoff, Samuel

Journal:

Year:

2015

Language:

english

File:

PDF, 194 KB

english, 2015

95

An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion.

Kambe, F, Seo, H, Mori, Y, Murata, Y, Janssen, O E, Refetoff, S, Matsui, N

Journal:

Molecular Endocrinology

Year:

1992

Language:

english

File:

PDF, 1.49 MB

english, 1992

96

Search for Abnormalities of Nuclear Corepressors, Coactivators, and a Coregulator in Families with Resistance to Thyroid Hormone without Mutations in Thyroid Hormone Receptor β or α Genes 1

Reutrakul, Sirimon, Sadow, Peter M., Pannain, Silvana, Pohlenz, Joachim, Carvalho, Gisah A., Macchia, Paolo E., Weiss, Roy E., Refetoff, Samuel

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 507 KB

english, 2000

97

Torpor in Mice Is Induced by Both Leptin-Dependent and -Independent Mechanisms

Oksana Gavrilova, Lisa R. Leon, Bernice Marcus-Samuels, Mark M. Mason, Arthur L. Castle, Samuel Refetoff, Charles Vinson and Marc L. Reitman

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1.21 MB

english, 1999

98

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests

Mimoto, Mizuho S, Karaca, Anara, Scherberg, Neal, Dumitrescu, Alexandra M, Refetoff, Samuel

Journal:

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

99

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.

Weiss, R E, Weinberg, M, Refetoff, S

Journal:

Journal of Clinical Investigation

Year:

1993

Language:

english

File:

PDF, 1.63 MB

english, 1993

100

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants

Fu, Jiao, Korwutthikulrangsri, Manassawee, Ramos-Platt, Leigh, Pierson, Tyler M, Liao, Xiao-Hui, Refetoff, Samuel, Weiss, Roy E, Dumitrescu, Alexandra M

Journal:

Year:

2019

File:

PDF, 1.37 MB

2019

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