Associated Papers
Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.
Kurnaz E et al.
Hormone Research in Paediatrics, 2026
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism.
Nadeali Z et al.
Frontiers in Endocrinology, 2025
Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.
Ricci V et al.
Frontiers in Endocrinology, 2025
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
Yeste D et al.
International Journal of Molecular Sciences, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models.
Capasso M et al.
Journal of Translational Medicine, 2024
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case report.
Liu Y et al.
Medicine, 2024
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K et al.
Jci Insight, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.
Frank MS et al.
Cancers, 2021
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N et al.
Plos One, 2018
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Vigone MC et al.
Clinical Endocrinology, 2017
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
Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2015
Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.
Cassio A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
Baş VN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Sriphrapradang C et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H et al.
Clinical Endocrinology, 2010
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.
Biebermann H et al.
Frontiers in Bioscience (landmark Edition), 2010
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
Nicoletti A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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
Thyroid stimulating autoantibody M22 mimics TSH binding to the TSH receptor leucine rich domain: a comparative structural study of protein-protein interactions.
Núñez Miguel R et al.
Journal of Molecular Endocrinology, 2009
FSH and TSH binding to their respective receptors: similarities, differences and implication for glycoprotein hormone specificity.
Núñez Miguel R et al.
Journal of Molecular Endocrinology, 2008
Identification of TSH receptor mutations in three families with resistance to TSH.
Tonacchera M et al.
Clinical Endocrinology, 2007
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
Grasberger H et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
Camilot M et al.
Genetic Testing, 2007
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
Jeziorowska A et al.
Thyroid : Official Journal of the American Thyroid Association, 2006