Samuel Refetoff to Heterozygote
This is a "connection" page, showing publications Samuel Refetoff has written about Heterozygote.
Connection Strength
1.149
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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: 0.186
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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
Score: 0.150
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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: 0.122
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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9.
Score: 0.119
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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: 0.097
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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88.
Score: 0.087
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.063
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Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency. Endocrinology. 2002 Apr; 143(4):1554-7.
Score: 0.049
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Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes. J Endocrinol. 2002 Jan; 172(1):177-85.
Score: 0.048
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.039
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35.
Score: 0.037
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A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011 May; 96(5):E841-5.
Score: 0.023
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Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 1986 Dec; 63(6):1432-7.
Score: 0.017
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TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.
Score: 0.017
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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: 0.016
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Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol Endocrinol. 2006 Apr; 20(4):893-903.
Score: 0.016
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Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf). 2003 Oct; 59(4):500-6.
Score: 0.014
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Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7.
Score: 0.014
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Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52.
Score: 0.011
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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: 0.010
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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: 0.006
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Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. N Engl J Med. 1968 May 16; 278(20):1081-7.
Score: 0.005
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A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program. Clin Invest Med. 1988 Feb; 11(1):34-9.
Score: 0.005