Samuel Refetoff to Mutation
This is a "connection" page, showing publications Samuel Refetoff has written about Mutation.
Connection Strength
8.337
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Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency. Thyroid. 2021 09; 31(9):1316-1321.
Score: 0.366
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Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551.
Score: 0.360
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Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. Thyroid. 2020 01; 30(1):37-41.
Score: 0.330
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Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41.
Score: 0.320
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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131.
Score: 0.267
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A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76.
Score: 0.241
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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9.
Score: 0.235
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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
Score: 0.233
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Coexistence of THRB and TBG gene mutations in a Turkish family. J Clin Endocrinol Metab. 2013 Jun; 98(6):E1148-51.
Score: 0.208
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Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab. 2012 Apr; 97(4):1328-36.
Score: 0.191
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Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7.
Score: 0.191
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.168
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Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009 Oct; 94(10):4003-9.
Score: 0.160
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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: 0.156
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Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone. Exp Clin Endocrinol Diabetes. 2009 Jan; 117(1):34-7.
Score: 0.148
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Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf). 2007 May; 66(5):695-702.
Score: 0.136
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75.
Score: 0.108
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The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52.
Score: 0.106
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A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12.
Score: 0.103
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Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5.
Score: 0.102
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Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266.
Score: 0.102
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Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9.
Score: 0.095
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Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44.
Score: 0.093
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Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.
Score: 0.092
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Intranasal delivery of Thyroid hormones in MCT8 deficiency. PLoS One. 2020; 15(7):e0236113.
Score: 0.086
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Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Score: 0.084
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Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642.
Score: 0.083
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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465.
Score: 0.083
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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: 0.082
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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: 0.079
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Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar; 84(3):1061-71.
Score: 0.078
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.077
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Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8.
Score: 0.076
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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
Score: 0.074
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13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691.
Score: 0.073
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Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54.
Score: 0.073
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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: 0.072
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Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240.
Score: 0.072
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Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 1997 Dec; 82(12):3933-40.
Score: 0.071
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Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. J Clin Endocrinol Metab. 1997 May; 82(5):1608-14.
Score: 0.069
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Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194.
Score: 0.068
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Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid. 1997 Feb; 7(1):35-8.
Score: 0.067
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Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab. 1996 Dec; 81(12):4196-203.
Score: 0.067
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Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid. 1996 Dec; 6(6):571-3.
Score: 0.067
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A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid. 2016 12; 26(12):1804-1806.
Score: 0.066
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A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep; 81(9):3335-40.
Score: 0.065
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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: 0.065
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Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2.
Score: 0.063
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A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 1996 Jan; 10(1):100-6.
Score: 0.063
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Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56.
Score: 0.062
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Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47.
Score: 0.061
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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 01 19; 332(3):155-60.
Score: 0.059
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Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2799-804.
Score: 0.058
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Mutations of CpG dinucleotides located in the triiodothyronine (T3)-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. J Clin Invest. 1994 Aug; 94(2):607-15.
Score: 0.057
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An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 1994 Jul 29; 202(2):781-7.
Score: 0.057
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A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50.
Score: 0.055
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Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43.
Score: 0.053
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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. J Clin Invest. 1993 Jun; 91(6):2408-15.
Score: 0.052
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Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9.
Score: 0.051
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The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
Score: 0.049
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Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9.
Score: 0.048
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Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8.
Score: 0.046
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Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8.
Score: 0.045
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Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr; 48(4):741-4.
Score: 0.045
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Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J Clin Invest. 1991 Feb; 87(2):496-502.
Score: 0.044
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Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
Score: 0.043
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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol. 2010 May; 52(5):475-82.
Score: 0.041
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A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar; 3(3):575-9.
Score: 0.039
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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: 0.039
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Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008 Jan; 4(1):1.
Score: 0.036
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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305.
Score: 0.034
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Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139.
Score: 0.034
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Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43.
Score: 0.032
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X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6.
Score: 0.030
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Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab. 2004 Aug; 89(8):4136-41.
Score: 0.028
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Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83.
Score: 0.028
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A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). J Endocrinol Invest. 2004 Apr; 27(4):318-22.
Score: 0.028
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Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004 Jan; 14(1):71-4.
Score: 0.027
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Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9.
Score: 0.026
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.025
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AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859.
Score: 0.024
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
Score: 0.024
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Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51.
Score: 0.024
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Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J Pediatr. 2001 Dec; 139(6):887-91.
Score: 0.024
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
Score: 0.022
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SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies. Cancer Discov. 2021 05; 11(5):1158-1175.
Score: 0.022
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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
Score: 0.022
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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: 0.022
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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. J Clin Endocrinol Metab. 2000 Jul; 85(7):2366-9.
Score: 0.021
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Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91.
Score: 0.021
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Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108.
Score: 0.021
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Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid. 1999 Oct; 9(10):995-1000.
Score: 0.020
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Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999 Oct; 9(10):1001-4.
Score: 0.020
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Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520.
Score: 0.020
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Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4.
Score: 0.019
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Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90.
Score: 0.018
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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: 0.016
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A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539.
Score: 0.016
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Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51.
Score: 0.015
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Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994 May; 40(5):697-700.
Score: 0.014
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Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab. 1994 Apr; 78(4):990-3.
Score: 0.014
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Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. Eur J Endocrinol. 1994 Apr; 130(4):426-8.
Score: 0.014
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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. Clin Endocrinol (Oxf). 1994 Feb; 40(2):221-6.
Score: 0.014
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Resistance to thyroid hormone and its molecular basis. Acta Paediatr Jpn. 1994 Feb; 36(1):1-15.
Score: 0.014
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Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K. Thyroid. 1994; 4(1):135-7.
Score: 0.014
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How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspect Biol Med. 1994; 37(3):315-26.
Score: 0.014
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Resistance to thyroid hormone. Clin Lab Med. 1993 Sep; 13(3):563-81.
Score: 0.013
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The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99.
Score: 0.013
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New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. J Clin Invest. 1992 Nov; 90(5):1825-31.
Score: 0.013
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Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972 Apr; 51(4):848-67.
Score: 0.012
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An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion. Mol Endocrinol. 1992 Mar; 6(3):443-9.
Score: 0.012
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Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
Score: 0.012
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Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992 Jan; 74(1):49-55.
Score: 0.012
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Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism. 1991 Nov; 40(11):1231-4.
Score: 0.012
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Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab. 2011 Jun; 96(6):E977-81.
Score: 0.011
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Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol. 1990 Dec; 4(12):1988-94.
Score: 0.011
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Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9.
Score: 0.010
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Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81.
Score: 0.010
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International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006 Dec; 58(4):705-11.
Score: 0.008
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A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4.
Score: 0.008
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Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res. 2005 May 15; 65(10):4238-45.
Score: 0.007
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Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. J Clin Invest. 2003 Aug; 112(4):588-97.
Score: 0.007
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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73.
Score: 0.006
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Functional characteristics of a variant thyrotropin receptor. Eur J Biochem. 1996 Jun 01; 238(2):490-4.
Score: 0.004
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Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. J Endocrinol Invest. 1994 Apr; 17(4):283-7.
Score: 0.003