Samuel Refetoff to Genotype
This is a "connection" page, showing publications Samuel Refetoff has written about Genotype.
Connection Strength
1.181
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Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948.
Score: 0.165
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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131.
Score: 0.103
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The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6.
Score: 0.070
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Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91.
Score: 0.069
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Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab. 2009 May; 94(5):1706-12.
Score: 0.060
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Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet. 2005 Dec; 118(3-4):348-55.
Score: 0.047
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The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258.
Score: 0.041
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The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52.
Score: 0.041
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Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9.
Score: 0.041
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Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000 Oct; 85(10):3609-17.
Score: 0.034
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.034
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Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab. 2000 Aug; 85(8):2786-92.
Score: 0.033
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Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1999 Nov; 84(11):3919-28.
Score: 0.032
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Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
Score: 0.030
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Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May; 81(5):469-76.
Score: 0.030
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.030
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Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54.
Score: 0.028
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Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998 Feb; 8(2):161-5.
Score: 0.028
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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 1997 Nov 17; 240(2):488-91.
Score: 0.028
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
Score: 0.027
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A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996 Aug; 6(4):311-2.
Score: 0.025
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A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6.
Score: 0.022
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Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54.
Score: 0.021
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Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9.
Score: 0.021
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Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9.
Score: 0.018
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Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93.
Score: 0.016
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Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81.
Score: 0.015
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Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis. J Biol Chem. 2006 Feb 24; 281(8):5000-7.
Score: 0.012
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Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2006 Jan; 91(1):270-6.
Score: 0.012
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Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). J Lab Clin Med. 2005 Aug; 146(2):85-94.
Score: 0.012
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Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5.
Score: 0.011
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Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice. EMBO Rep. 2003 Jun; 4(6):581-7.
Score: 0.010
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A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999 Dec; 9(12):1195-203.
Score: 0.008
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Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3802-6.
Score: 0.006