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
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
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
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
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
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos 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
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
A founder SDHB mutation in Portuguese paraganglioma patients.
Martins RG et al.
Endocrine-related Cancer, 2013
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
Ricketts CJ et al.
The Journal of Urology, 2012
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.
Yang C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
van Nederveen FH et al.
The Lancet. Oncology, 2009
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.
Henderson A et al.
Familial Cancer, 2009
Germline SDHB mutations and familial renal cell carcinoma.
Ricketts C et al.
Journal of the National Cancer Institute, 2008
Neuroendocrine tumors and tumor syndromes in childhood.
Gaal J et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0