Roy Emanuel Weiss to Phenotype
This is a "connection" page, showing publications Roy Emanuel Weiss has written about Phenotype.
Connection Strength
0.912
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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: 0.507
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.106
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"They have ears but do not hear" (Psalms 135:17): non-thyroid hormone receptor beta (non-TRbeta) resistance to thyroid hormone. Thyroid. 2008 Jan; 18(1):3-5.
Score: 0.050
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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: 0.032
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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: 0.029
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An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066.
Score: 0.024
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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: 0.023
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Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21.
Score: 0.020
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Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
Score: 0.016
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.014
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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: 0.014
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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: 0.011
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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: 0.008
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Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul; 21(14):4748-60.
Score: 0.008
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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: 0.007
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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: 0.007
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The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid. 1999 Sep; 9(9):887-94.
Score: 0.007
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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: 0.007
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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: 0.006
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A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997 Oct; 7(5):771-3.
Score: 0.006
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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: 0.005
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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: 0.005