Associated Papers
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.
Guha A et al.
Frontiers in Endocrinology, 2023
Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes.
Bayley JP et al.
Genes, 2022
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Gordon DM et al.
Endocrine Connections, 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
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 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
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
Shulskaya MV et al.
The International Journal of Neuroscience, 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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.
Niemeijer ND et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast.
Chang YL et al.
Antioxidants & Redox Signaling, 2015
Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling.
Cama A et al.
Acta Neuropathologica, 2013
A differential diagnosis of inherited endocrine tumors and their tumor counterparts.
Toledo SP et al.
Clinics (sao Paulo, Brazil), 2013
Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.
Weber A et al.
Hormones & Cancer, 2012
Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.
Rapizzi E et al.
Endocrine-related Cancer, 2012
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
Schiavi F et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
Zha Y et al.
The Laryngoscope, 2011
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
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
Peczkowska M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Systematic screening and treatment evaluation of hereditary neck paragangliomas.
Fish JH et al.
Head & Neck, 2007
The role of Sdh4p Tyr-89 in ubiquinone reduction by the Saccharomyces cerevisiae succinate dehydrogenase.
Silkin Y et al.
Biochimica Et Biophysica Acta, 2007
Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.
Schiavi F 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
Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.
Velasco A et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Neumann HP et al.
Jama, 2004
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
Riemann K et al.
Cancer Genetics and Cytogenetics, 2004
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.
Renard L et al.
Head & Neck, 2003
Hereditary paraganglioma targets diverse paraganglia.
Baysal BE
Journal of Medical Genetics, 2002
Carotid body paraganglioma and SDHD mutation in a Greek family.
Liapis CD et al.
Anticancer Research, 0
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
Braun S et al.
Anticancer Research, 0