Associated Papers
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Systemic mastocytosis, in the context of a deleterious germline SDHC variant, treated with ripretinib.
Saheb Kashaf S et al.
Jaad Case Reports, 2023
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST et al.
Clinical Endocrinology, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.
Michałowska I et al.
Polish Journal of Radiology, 2016
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS et al.
Oncotarget, 2015
Ubiquinone-binding site mutagenesis reveals the role of mitochondrial complex II in cell death initiation.
Kluckova K et al.
Cell Death & Disease, 2015
Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.
Michałowska I et al.
Neuroendocrinology, 2015
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
Hensen EF et al.
Clinical Genetics, 2012
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
Erlic Z et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.
Peczkowska M et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2008
Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinate.
Szeto SSW et al.
The Journal of Biological Chemistry, 2007
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
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
Schiavi F et al.
Jama, 2005