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
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
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Nature Communications, 2025
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 2022
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft ML et al.
Journal of Personalized Medicine, 2022
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L et al.
Journal of Medical Genetics, 2022
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.
Armstrong N et al.
Cell Reports, 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
Carotid body tumor with neck metastasis due to germline SDHB variant: a case report and literature review.
Mikoshiba T et al.
International Cancer Conference Journal, 2022
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
Metastatic Paraganglioma of the Spine With SDHB Mutation: Case Report and Review of the Literature.
Jabarkheel R et al.
International Journal of Spine Surgery, 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
Paraganglioma of the Vagina Associated With Germline SDHB Mutation: Report of a Case With Review of the Literature.
Wong RW et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2020
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.
Tomić TT et al.
Plos Genetics, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2020
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB et al.
Frontiers in Genetics, 2020
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
Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?
Tufton N et al.
Clinical Endocrinology, 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 emerging role and targetability of the TCA cycle in cancer metabolism.
Anderson NM et al.
Protein & Cell, 2018
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA et al.
Clinical Genetics, 2018
Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.
Iwashita H et al.
Pathology International, 2017
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2017
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND et al.
European Journal of Endocrinology, 2017
Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.
Kim E et al.
Molecular Genetics and Metabolism Reports, 2017
SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.
Saxena N et al.
Journal of the National Cancer Institute, 2016
Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma.
Janssen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015
Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.
Martucci VL et al.
Urologic Oncology, 2015
Paraganglioma Presenting as Postpartum Fever of Unknown Origin.
Narechania S et al.
Case Reports in Endocrinology, 2015