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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Dedifferentiation in SDH-Deficient Gastrointestinal Stromal Tumor: A Report With Histologic, Immunophenotypic, and Molecular Characterization.
Malik F et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
Dwight T et al.
Bmc Cancer, 2017
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega LJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.
Saxena N et al.
Journal of the National Cancer Institute, 2016
Structural and functional consequences of succinate dehydrogenase subunit B mutations.
Kim E et al.
Endocrine-related Cancer, 2015
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
Zu TJ et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2011
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
Meyer-Rochow GY et al.
The Journal of Surgical Research, 2009
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
The occurrence of SDHB gene mutations in pheochromocytoma.
Van Nederveen FH et al.
Annals of the New York Academy of Sciences, 2006
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene.
Zantour B et al.
European Journal of Endocrinology, 2004
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
Maier-Woelfle M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Benn DE et al.
Oncogene, 2003
The pressure rises: update on the genetics of phaeochromocytoma.
Maher ER et al.
Human Molecular Genetics, 2002
Hereditary paraganglioma targets diverse paraganglia.
Baysal BE
Journal of Medical Genetics, 2002
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.
Young AL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002