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Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 348, doi. 10.1007/s00439-005-0036-6
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- Publication type:
- Article
Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 6, p. 975, doi. 10.3390/cells11060975
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- Publication type:
- Article
Fetal Loss Associated With Excess Thyroid Hormone Exposure.
- Published in:
- 2005
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- Publication type:
- Letter
Fetal Loss Associated With Excess Thyroid Hormone Exposure—Reply.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 292, n. 17, p. 2085, doi. 10.1001/jama.292.17.2086-a
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- Publication type:
- Article
Fetal Loss Associated With Excess Thyroid Hormone Exposure.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 292, n. 6, p. 691, doi. 10.1001/jama.292.6.691
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- Publication type:
- Article
Analysis of the PAX8 Gene in Congenital Hypothyroidism Caused by Different Forms of Thyroid Dysgenesis in a Father and Daughter.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 7, p. 1021, doi. 10.1515/jpem.2004.17.7.1021
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- Publication type:
- Article
Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism.
- Published in:
- Endocrinology, 2022, v. 163, n. 12, p. 1, doi. 10.1210/endocr/bqac158
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- Publication type:
- Article
THE ACTION OF THYROID HORMONE.
- Published in:
- Clinical Endocrinology, 1977, v. 6, n. 3, p. 227, doi. 10.1111/j.1365-2265.1977.tb03319.x
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- Publication type:
- Article
FAMILIAL GOITRE WITH PARTIAL IODINE ORGANIFICATION DEFECT, LACK OF THYROGLOBULIN, AND HIGH LEVELS OF THYROID PEROXIDASE.
- Published in:
- Clinical Endocrinology, 1977, v. 6, n. 1, p. 27, doi. 10.1111/j.1365-2265.1977.tb01993.x
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- Publication type:
- Article
MEASURMENT OF CIRCULATING THYROID MICROSOMAL ANTIBODIES BY THE TANNED RED CELL HAEMAGGLUTINATION TECHNIQUE: ITS USEFULNESS IN THE DIAGNOSIS OF AUTOIMMUNE THYROID DISEASES.
- Published in:
- Clinical Endocrinology, 1976, v. 5, n. 2, p. 115, doi. 10.1111/j.1365-2265.1976.tb02822.x
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- Publication type:
- Article
Case Report. Circulating Antibodies to T4 Causing Discordant Tests of Thyroid Function: A Case Report.
- Published in:
- Turkish Journal of Endocrinology & Metabolism, 2014, v. 18, n. 1, p. 19, doi. 10.4274/tjem.2290
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- Publication type:
- Article
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene.
- Published in:
- Turkish Journal of Endocrinology & Metabolism, 2009, v. 13, n. 3, p. 43
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- Publication type:
- Article
Hyperthyroidism and Adult Celiac Disease.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1973, v. 60, n. 4, p. 387
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- Publication type:
- Article
Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone.
- Published in:
- EMBO Journal, 1999, v. 18, n. 7, p. 1900, doi. 10.1093/emboj/18.7.1900
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- Publication type:
- Article
Generation of functional thyroid from embryonic stem cells.
- Published in:
- Nature, 2012, v. 491, n. 7422, p. 66, doi. 10.1038/nature11525
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- Publication type:
- 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
Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess.
- Published in:
- European Journal of Endocrinology, 2004, v. 151, n. 6, p. 771, doi. 10.1530/eje.0.1510771
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- Publication type:
- Article
Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 α and β isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart.
- Published in:
- European Journal of Endocrinology, 2004, v. 150, n. 3, p. 0371
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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 (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 2, p. 137, doi. 10.1159/000445891
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- Publication type:
- Article
Pseudomalabsorption of Levothyroxine.
- Published in:
- JAMA: Journal of the American Medical Association, 1991, v. 266, n. 15, p. 2118, doi. 10.1001/jama.1991.03470150090036
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- Publication type:
- Article
Neonatal Detection of Generalized Resistance to Thyroid Hormone.
- Published in:
- 1990
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- Publication type:
- Case Study
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 1/2, p. 241, doi. 10.1515/jpem-2014-0019
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- Publication type:
- Article
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 119, doi. 10.1515/jpem-2012-0287
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- Publication type:
- Article
Congenital Neonatal Hyperthyroidism Caused by Germline Mutations in the TSH Receptor Gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 5, p. 479, doi. 10.1515/jpem.2008.21.5.479
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- Publication type:
- Article
Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells.
- Published in:
- European Journal of Endocrinology, 2001, v. 144, n. 6, p. 611, doi. 10.1530/eje.0.1440611
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- Publication type:
- Article
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
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
- Published in:
- 2019
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- Publication type:
- journal 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
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- Publication type:
- Case Study
Increased Oxidative Metabolism and Neurotransmitter Cycling in the Brain of Mice Lacking the Thyroid Hormone Transporter Slc16a2 (Mct8).
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0074621
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- Publication type:
- Article
Distinct and Histone-Specific Modifications Mediate Positive versus Negative Transcriptional Regulation of TSHα Promoter.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009853
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- Publication type:
- Article
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
- Published in:
- 2009
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- Publication type:
- journal article
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
- Published in:
- 2009
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- Publication type:
- journal article
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
- Published in:
- 2008
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- Publication type:
- journal article
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
- Published in:
- 2008
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- Publication type:
- journal article
A Familial Thyrotropin (TSH) Receptor Mutation Provides in Vivo Evidence that the Inositol Phosphates/Ca<sup>2+</sup> Cascade Mediates TSH Action on Thyroid Hormone Synthesis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 7, p. 2816, doi. 10.1210/jc.2007-0366
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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 Novel Thyroid Hormone Receptor-β Mutation That Fails to Bind Nuclear Receptor Corepressor in a Patient as an Apparent Cause of Severe, Predominantly Pituitary Resistance to Thyroid Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1887, doi. 10.1210/jc.2005-2428
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- Publication type:
- Article
Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome.
- Published in:
- 2006
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- Publication type:
- journal 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
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 5, p. 2477, doi. 10.1210/jc.2003-031613
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- Publication type:
- Article
Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSHβ-Subunit Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 1, p. 336, doi. 10.1210/jcem.87.1.8154
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- Publication type:
- Article
Three Novel Mutations Causing Complete T<sub>4</sub>-Binding Globulin Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 10, p. 5039, doi. 10.1210/jcem.86.10.7916
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- Publication type:
- Article
Resistance to Thyroid Hormone Does Not Abrogate the Transient Thyrotoxicosis Associated with Gestation: Report of a Case.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4273, doi. 10.1210/jcem.86.9.7858
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- Publication type:
- Article
Search for Abnormalities of Nuclear Corepressors, Coactivators, and a Coregulator in Families with Resistance to Thyroid Hormone without Mutations in Thyroid Hormone Receptor β or α Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 10, p. 3609, doi. 10.1210/jcem.85.10.6873
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- Publication type:
- Article
Failure of Membrane Targeting Causes the Functional Defect of Two Mutant Sodium Iodide Symporters.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 7, p. 2366, doi. 10.1210/jcem.85.7.6700
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- Publication type:
- Article
Identification of Thyroxine-Binding Globulin-San Diego in a Family from Houston and Its Characterization by in Vitro Expression Using Xenopus Oocytes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 1, p. 368, doi. 10.1210/jcem.85.1.6317
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- Publication type:
- Article
Five New Families with Resistance to Thyroid Hormone not Caused by Mutations in the Thyroid Hormone Receptor β Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 11, p. 3919, doi. 10.1210/jcem.84.11.6080
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- Publication type:
- Article
Two Different Mutations in the Thyroid Peroxidase Gene of a Large Inbred Amish Kindred: Power and Limits of Homozygosity Mapping.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 3, p. 1061, doi. 10.1210/jcem.84.3.5541
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- Publication type:
- Article