Found: 41
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Effect of the Fetal THRB Genotype on the Placenta.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. e944, doi. 10.1210/clinem/dgad243
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- Publication type:
- Article
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
- Published in:
- 2020
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- Publication type:
- journal article
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center.
- Published in:
- BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-01116-1
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- Publication type:
- Article
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
- Published in:
- 2010
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- Publication type:
- journal article
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
- Published in:
- Nature Genetics, 2005, v. 37, n. 11, p. 1247, doi. 10.1038/ng1654
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- Publication type:
- Article
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
- Published in:
- 2017
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- Publication type:
- journal article
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
- Published in:
- 2012
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- Publication type:
- journal article
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
- Published in:
- 2011
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- Publication type:
- journal article
Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppressed by Lat2 Inactivation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096915
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- Publication type:
- Article
IMPAIRED SELENOPROTEIN SYNTHESIS CAUSED BY SBP2 GENE MUTATIONS MANIFESTS AS AN INHERITED DEFECT IN INTRACELLULAR THYROID HORMONE METABOLISM.
- Published in:
- Acta Endocrinologica (1841-0987), 2007, v. 3, n. 2, p. 189, doi. 10.4183/aeb.2007.189
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- Publication type:
- Article
THE PRESENTATION OF A NOVEL SYNDROME CAUSED BY MUTATIONS IN THE X-LINKED THYROID HORMONE TRANSPORTER, MCTS.
- Published in:
- Acta Endocrinologica (1841-0987), 2007, v. 3, n. 1, p. 69, doi. 10.4183/aeb.2007.69
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- Publication type:
- Article
Mosaicism of a Thyroid Hormone Receptor-β Gene Mutation in Resistance to Thyroid Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3471, doi. 10.1210/jc.2006-0727
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- Publication type:
- Article
A De Novo Mutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1760, doi. 10.1210/jc.2004-1488
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- Publication type:
- Article
Thyroid Hormone Responsive Genes in Cultured Human Fibroblasts.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 936, doi. 10.1210/jc.2004-1768
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- Publication type:
- Article
X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 6, p. 663, doi. 10.1007/s00415-005-0713-3
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- Publication type:
- Article
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.
- Published in:
- Thyroid, 2023, v. 33, n. 10, p. 1255, doi. 10.1089/thy.2023.0236
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- Publication type:
- Article
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
- Published in:
- Thyroid, 2022, v. 32, n. 8, p. 1000, doi. 10.1089/thy.2022.0117
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- Publication type:
- Article
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
- Published in:
- Thyroid, 2022, v. 32, n. 7, p. 849, doi. 10.1089/thy.2022.0034
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- Publication type:
- Article
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
- Published in:
- Thyroid, 2022, v. 32, n. 3, p. 336, doi. 10.1089/thy.2021.0523
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- Publication type:
- Article
Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans.
- Published in:
- Thyroid, 2022, v. 32, n. 2, p. 196, doi. 10.1089/thy.2021.0304
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- Publication type:
- Article
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
- Published in:
- Thyroid, 2021, v. 31, n. 6, p. 1003, doi. 10.1089/thy.2020.0695
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- Publication type:
- Article
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
- Published in:
- Thyroid, 2021, v. 31, n. 5, p. 713, doi. 10.1089/thy.2020.0306
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- Publication type:
- Article
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
- Published in:
- Thyroid, 2021, v. 31, n. 2, p. 202, doi. 10.1089/thy.2020.0253
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- Publication type:
- Article
Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
- Published in:
- Thyroid, 2020, v. 30, n. 4, p. 640, doi. 10.1089/thy.2019.0471
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- Publication type:
- Article
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
- Published in:
- Thyroid, 2020, v. 30, n. 3, p. 463, doi. 10.1089/thy.2018.0703
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- Publication type:
- Article
Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
- Published in:
- Thyroid, 2019, v. 29, n. 10, p. 1518, doi. 10.1089/thy.2019.0095
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- Publication type:
- Article
Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
- Published in:
- Thyroid, 2019, v. 29, n. 6, p. 778, doi. 10.1089/thy.2019.0080
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- Publication type:
- Article
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
- Published in:
- Thyroid, 2019, v. 29, n. 2, p. 302, doi. 10.1089/thy.2018.0295
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- Publication type:
- Article
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
- Published in:
- Thyroid, 2018, v. 28, n. 9, p. 1221, doi. 10.1089/thy.2018.0015
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- Publication type:
- Article
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
- Published in:
- Thyroid, 2018, v. 28, n. 6, p. 811, doi. 10.1089/thy.2017.0564
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- Publication type:
- Article
Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
- Published in:
- Thyroid, 2016, v. 26, n. 9, p. 1311, doi. 10.1089/thy.2016.0060
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- Publication type:
- Article
Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
- Published in:
- Endocrinology, 2020, v. 161, n. 5, p. 1, doi. 10.1210/endocr/bqz032
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- Publication type:
- Article
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 6, p. 390, doi. 10.1159/000504981
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- Publication type:
- Article
A Novel Mutation in the Albumin Gene (R218S) Causing Familial Dysalbuminemic Hyperthyroxinemia in a Family of Bangladeshi Extraction.
- Published in:
- Thyroid, 2014, v. 24, n. 6, p. 945, doi. 10.1089/thy.2013.0540
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- Publication type:
- Article
Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism.
- Published in:
- Thyroid, 2014, v. 24, n. 3, p. 407, doi. 10.1089/thy.2013.3393.nomen
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- Publication type:
- Article
Consecutive Mutational Events in a TSHR Allele of Arab Families with Resistance to Thyroid Stimulating Hormone.
- Published in:
- Thyroid, 2012, v. 22, n. 3, p. 252, doi. 10.1089/thy.2011.0402
- By:
- Publication type:
- Article
Selenium Supplementation Fails to Correct the Selenoprotein Synthesis Defect in Subjects with Sequence Binding Protein 2 Gene Mutations.
- Published in:
- Thyroid, 2009, v. 19, n. 3, p. 277, doi. 10.1089/thy.2008.0397
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- Publication type:
- Article
Dietary Selenium Deficiency Partially Mimics the Metabolic Effects of Arsenic.
- Published in:
- Nutrients, 2021, v. 13, n. 8, p. 2894, doi. 10.3390/nu13082894
- By:
- Publication type:
- Article
A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study