Associated Papers
Low psychosocial burden in patients with paraganglioma syndrome: results from the Head and Neck Paraganglioma Registry in a single center.
de Bresser CJM et al.
European Journal of Endocrinology, 2025
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
A case report of an intracardiac paraganglioma attached to the left main coronary artery in a patient with a succinate dehydrogenase complex subunit D mutation.
Feijen M et al.
European Heart Journal. Case Reports, 2023
The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
Snezhkina A et al.
International Journal of Molecular Sciences, 2022
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Gordon DM et al.
Endocrine Connections, 2022
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 2021
Management of Multiple Secreting Paragangliomas in a Succinate Dehydrogenase Subunit D (SDHD) Variant Carrier.
Rijken JA et al.
The Annals of Thoracic Surgery, 2020
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
Bayley JP et al.
Journal of Medical Genetics, 2020
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
Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?
Tufton N et al.
Clinical Endocrinology, 2019
SDHD gene mutation in Mexican population with carotid body tumor.
Enríquez-Vega ME et al.
Cirugia Y Cirujanos, 2019
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.
Heesterman BL et al.
European Journal of Human Genetics : Ejhg, 2018
The emerging role and targetability of the TCA cycle in cancer metabolism.
Anderson NM et al.
Protein & Cell, 2018
SDHD gene mutation in Mexican population whit carotid body tumor.
Enríquez-Vega ME et al.
Cirugia Y Cirujanos, 2018
Genetic and epigenetic patterns in patients with the head-and-neck paragangliomas associate with differential clinical characteristics.
Chen H et al.
Journal of Cancer Research and Clinical Oncology, 2017
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS et al.
Oncotarget, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
No evidence for increased mortality in SDHD variant carriers compared with the general population.
van Hulsteijn LT et al.
European Journal of Human Genetics : Ejhg, 2015
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
15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations.
Baysal BE et al.
Endocrine-related Cancer, 2015
Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.
Kim ES et al.
Head & Neck, 2014
Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.
Papathomas TG et al.
Endocrine-related Cancer, 2014
No difference in phenotype of the main Dutch SDHD founder mutations.
van Hulsteijn LT et al.
Clinical Endocrinology, 2013
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
Heesterman BL et al.
European Journal of Human Genetics : Ejhg, 2013
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.
Wang CP et al.
Oral Oncology, 2012
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.
Hensen EF et al.
Clinical Endocrinology, 2011
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
Inhibition of succinate dehydrogenase dysregulates histone modification in mammalian cells.
Cervera AM et al.
Molecular Cancer, 2009
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
Bayley JP et al.
Endocrine-related Cancer, 2009
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome.
Opocher G et al.
Annales D'endocrinologie, 2009
Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.
Havekes B et al.
Endocrine-related Cancer, 2009
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
Bayley JP et al.
Bmc Medical Genetics, 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
Clinical and molecular progress in hereditary paraganglioma.
Baysal BE
Journal of Medical Genetics, 2008
[Pheochromocytomas and paragangliomas: implications of new insights for diagnosis and treatment].
van der Kleij-Corssmit EP et al.
Nederlands Tijdschrift Voor Geneeskunde, 2008
Novel SDHD germ-line mutations in pheochromocytoma patients.
Neumayer C et al.
European Journal of Clinical Investigation, 2007
Basic fibroblast growth factor and fibroblastic growth factor receptor-1 may contribute to head and neck paraganglioma development by an autocrine or paracrine mechanism.
Douwes Dekker PB et al.
Human Pathology, 2007
Genetic basis of phaeochromocytoma and paraganglioma.
Benn DE et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
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 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
Mitochondrial tumour suppressors: a genetic and biochemical update.
Gottlieb E et al.
Nature Reviews. Cancer, 2005
Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.
Simi L et al.
Journal of Medical Genetics, 2005
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
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
Mhatre AN et al.
Clinical Genetics, 2004
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.
Badenhop RF et al.
Journal of Medical Genetics, 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
SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.
Douwes Dekker PB et al.
The Journal of Pathology, 2003