Associated Papers
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?
Cortinhas-Alves EA et al.
Genetics and Molecular Biology, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K et al.
Jci Insight, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
TSH-β gene polymorphism in Saudi patients with thyroid cancer: A case-control study.
AlRasheed MM
Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2022
Gene polymorphism in tissue epidermal growth factor receptor (EGFR) influences clinical and histological vulnerability of carotid plaques.
Vasuri F et al.
Pathology, Research and Practice, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
Nanki Y et al.
Scientific Reports, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
Patel KA et al.
Clinical Endocrinology, 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.
Guan H et al.
Frontiers in Endocrinology, 2018
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Wang F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Genetics of Thyroid-Stimulating Hormone Receptor-Relevance for Autoimmune Thyroid Disease.
Stefan M et al.
Frontiers in Endocrinology, 2017
Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis.
Qian W et al.
Journal of Biomedical Research, 2016
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
Gözü HI et al.
Genetics and Molecular Research : Gmr, 2016
Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin.
Lombardi A et al.
Frontiers in Endocrinology, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.
Agretti P et al.
Journal of Endocrinological Investigation, 2014
Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population.
Liu BL et al.
European Journal of Endocrinology, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Replication of association of nine susceptibility loci with Graves' disease in the Chinese Han population.
Du W et al.
International Journal of Clinical and Experimental Medicine, 2014
The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms.
Bayram B et al.
Genetic Testing and Molecular Biomarkers, 2013
Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population.
Liu L et al.
Endocrine Journal, 2012
Study on the relationship between TSHR gene and thyroid diseases.
Shao L et al.
Cell Biochemistry and Biophysics, 2011
Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas.
Jaeschke H et al.
Clinical Endocrinology, 2010
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
Ma SG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.
Płoski R et al.
Plos One, 2010
Genetic susceptibility to autoimmune thyroid disease: past, present, and future.
Tomer Y
Thyroid : Official Journal of the American Thyroid Association, 2010
Genetics of thyroid autoimmunity and the role of the TSHR.
Brand OJ et al.
Molecular and Cellular Endocrinology, 2010
Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
Rapa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Germ-line DNA polymorphisms and susceptibility to differentiated thyroid cancer.
Adjadj E et al.
The Lancet. Oncology, 2009
Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.
Ramos HE et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
Palos-Paz F et al.
European Journal of Endocrinology, 2008
Genetic developments in autoimmune thyroid disease: an evolutionary process.
Zeitlin AA et al.
Clinical Endocrinology, 2008
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
Yuan ZF et al.
Endocrine Journal, 2008
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
Gozu HI et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism on bone: the Rotterdam Study.
van der Deure WM et al.
Clinical Endocrinology, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
The genetic basis of thyroid autoimmunity.
Jacobson EM et al.
Thyroid : Official Journal of the American Thyroid Association, 2007
[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].
Yuan ZF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007