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Samuel Refetoff to Adolescent

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This is a "connection" page, showing publications Samuel Refetoff has written about Adolescent.
Samuel Refetoff
Connection Strength
0.808
Adolescent
  1. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9.
    View in: PubMed
    Score: 0.053
  2. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
    View in: PubMed
    Score: 0.053
  3. 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.
    View in: PubMed
    Score: 0.041
  4. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
    View in: PubMed
    Score: 0.038
  5. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
    View in: PubMed
    Score: 0.038
  6. 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.
    View in: PubMed
    Score: 0.035
  7. 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.
    View in: PubMed
    Score: 0.033
  8. 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.
    View in: PubMed
    Score: 0.031
  9. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
    View in: PubMed
    Score: 0.028
  10. Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3.
    View in: PubMed
    Score: 0.027
  11. Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest. 2005 Apr; 28(4):379-83.
    View in: PubMed
    Score: 0.027
  12. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul; 19(7):1779-91.
    View in: PubMed
    Score: 0.027
  13. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003 Nov; 17(11):2295-302.
    View in: PubMed
    Score: 0.024
  14. Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44.
    View in: PubMed
    Score: 0.021
  15. Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
    View in: PubMed
    Score: 0.020
  16. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
    View in: PubMed
    Score: 0.020
  17. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
    View in: PubMed
    Score: 0.019
  18. 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.
    View in: PubMed
    Score: 0.018
  19. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
    View in: PubMed
    Score: 0.018
  20. 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.
    View in: PubMed
    Score: 0.016
  21. Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone. Thyroid. 1996 Dec; 6(6):589-93.
    View in: PubMed
    Score: 0.015
  22. 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.
    View in: PubMed
    Score: 0.015
  23. A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Horm Res Paediatr. 2016; 86(2):137-142.
    View in: PubMed
    Score: 0.014
  24. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995 Dec; 80(12):3744-9.
    View in: PubMed
    Score: 0.014
  25. Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr. 1995 Dec; 16(6):406-11.
    View in: PubMed
    Score: 0.014
  26. 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.
    View in: PubMed
    Score: 0.014
  27. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8.
    View in: PubMed
    Score: 0.013
  28. 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.
    View in: PubMed
    Score: 0.013
  29. Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr; 83(4):1344-8.
    View in: PubMed
    Score: 0.009
  30. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81.
    View in: PubMed
    Score: 0.009
  31. Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion. N Engl J Med. 1985 May 23; 312(21):1343-9.
    View in: PubMed
    Score: 0.007
  32. X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. J Clin Endocrinol Metab. 1985 Feb; 60(2):356-60.
    View in: PubMed
    Score: 0.007
  33. Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum. J Clin Endocrinol Metab. 1984 Aug; 59(2):269-77.
    View in: PubMed
    Score: 0.006
  34. 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.
    View in: PubMed
    Score: 0.006
  35. Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7.
    View in: PubMed
    Score: 0.006
  36. Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98.
    View in: PubMed
    Score: 0.006
  37. Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52.
    View in: PubMed
    Score: 0.005
  38. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91.
    View in: PubMed
    Score: 0.005
  39. Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Ann Intern Med. 1980 Apr; 92(4):491-5.
    View in: PubMed
    Score: 0.005
  40. Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2.
    View in: PubMed
    Score: 0.005
  41. 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.
    View in: PubMed
    Score: 0.005
  42. 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.
    View in: PubMed
    Score: 0.005
  43. Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood. N Engl J Med. 1975 Jan 23; 292(4):171-5.
    View in: PubMed
    Score: 0.003
  44. Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations. J Clin Endocrinol Metab. 1974 Mar; 38(3):450-7.
    View in: PubMed
    Score: 0.003
  45. The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome. J Clin Endocrinol Metab. 1973 Oct; 37(4):574-80.
    View in: PubMed
    Score: 0.003
  46. Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972 Aug; 21(8):723-56.
    View in: PubMed
    Score: 0.003
  47. 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.
    View in: PubMed
    Score: 0.003
  48. 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.
    View in: PubMed
    Score: 0.002
  49. Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab. 1988 Apr; 66(4):740-6.
    View in: PubMed
    Score: 0.002
  50. Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis. J Clin Endocrinol Metab. 1987 Aug; 65(2):242-6.
    View in: PubMed
    Score: 0.002
  51. Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 1983 Dec; 57(6):1233-9.
    View in: PubMed
    Score: 0.002
  52. The influence of percutaneous fine needle aspiration on serum thyroglobulin. J Clin Endocrinol Metab. 1983 Jan; 56(1):26-9.
    View in: PubMed
    Score: 0.001
  53. Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab. 1978 Dec; 47(6):1266-72.
    View in: PubMed
    Score: 0.001
  54. Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977 Jan; 6(1):27-39.
    View in: PubMed
    Score: 0.001
  55. Abnormal thyroxine metabolism in hyposomatotrophic dwarfism and inhibition of responsiveness to TRH during GH therapy. Pediatrics. 1973 Apr; 51(4):668-74.
    View in: PubMed
    Score: 0.001
  56. Peroxidase defect in congenital goiter with complete organification block. J Clin Endocrinol Metab. 1973 Feb; 36(2):347-57.
    View in: PubMed
    Score: 0.001
  57. Suppression of serum thyrotropin (TSH) by L-dopa in chronic hypothyroidism: interrelationships in the regulation of TSH and prolactin secretion. J Clin Endocrinol Metab. 1973 Feb; 36(2):256-62.
    View in: PubMed
    Score: 0.001
  58. Immunoreactive growth hormone in endemic cretins in Ecuador. Lancet. 1968 May 04; 1(7549):937-40.
    View in: PubMed
    Score: 0.001
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