Samuel Refetoff to Genetic Predisposition to Disease
This is a "connection" page, showing publications Samuel Refetoff has written about Genetic Predisposition to Disease.
Connection Strength
0.580
-
Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240.
Score: 0.321
-
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: 0.102
-
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
Score: 0.040
-
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 2006 Jul 07; 281(27):18269-72.
Score: 0.036
-
Mice Hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels. Thyroid. 2021 01; 31(1):23-35.
Score: 0.024
-
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Score: 0.024
-
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
Score: 0.021
-
Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93.
Score: 0.012