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
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
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Nature Communications, 2025
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Bayley JP et al.
Journal of Medical Genetics, 2023
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma.
Alzahrani AS et al.
Frontiers in Endocrinology, 2023
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Extensive patient-to-patient single nucleus transcriptome heterogeneity in pheochromocytomas and paragangliomas.
Brazda P et al.
Frontiers in Oncology, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 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
Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.
Main AM et al.
Endocrine Connections, 2020
Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.
Martins RG et al.
Clinical Endocrinology, 2020
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.
Snezhkina AV et al.
Frontiers in Genetics, 2020
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Albattal S et al.
Oncotarget, 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
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
Huang Y et al.
Endocrine Connections, 2018
Bayesian approach to determining penetrance of pathogenic SDH variants.
Benn DE et al.
Journal of Medical Genetics, 2018
[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].
Wu K et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2018
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
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA et al.
Clinical Genetics, 2018
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
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
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
Guan Y et al.
Familial Cancer, 2015
Phenotype of SDHB mutation carriers in the Netherlands.
van Hulsteijn LT et al.
Familial Cancer, 2014
Pheochromocytoma and paraganglioma syndromes: genetics and management update.
Lefebvre M et al.
Current Oncology (toronto, Ont.), 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
Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
Timmers HJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.
Timmers HJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP et al.
Bmc Medical Genetics, 2006