Associated Papers
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 2025
In-silico identification and functional analysis of high-risk oncogenic nsSNPs in the human SDHB gene and their implications for cancer susceptibility.
Siddiqui AJ et al.
3 Biotech, 2025
Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.
Ambulkar KS et al.
Endocrine Connections, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Diagnosis, Genetics, and Management of 24 Patients With Cardiac Paragangliomas: Experience From a Single Center.
Shi C et al.
Journal of the Endocrine Society, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
Sarkadi B et al.
Cancers, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.
Wang Z et al.
Translational Oncology, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Greenberg SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon L et al.
Cancers, 2019
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA et al.
Cancers, 2019
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.
Rijken JA et al.
Bjs Open, 2018
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA et al.
Clinical Genetics, 2018
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND et al.
European Journal of Endocrinology, 2017
Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.
Eijkelenkamp K et al.
Familial Cancer, 2017
Phenotype of SDHB mutation carriers in the Netherlands.
van Hulsteijn LT et al.
Familial Cancer, 2014
Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.
Kimura N et al.
Endocrine-related Cancer, 2014
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ et al.
Human Mutation, 2010
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
Klein RD et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008
A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia.
Baysal BE
Plos One, 2007