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
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay.
Wang Q et al.
Genes & Diseases, 2024
A Narrative Review of Pheochromocytoma in VHL.
Coco D et al.
Journal of Kidney Cancer and Vhl, 2024
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 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
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB et al.
Endocrine-related Cancer, 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
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1.
Lin T et al.
Frontiers in Genetics, 2022
Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.
Bayley JP et al.
Plos One, 2022
Interleukin-6 producing pheochromocytoma/paraganglioma: case series from a tertiary referral centre for pheochromocytomas and paragangliomas.
Meijs AC et al.
Journal of Endocrinological Investigation, 2021
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 2021
Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss.
Al Qahtani NH et al.
Frontiers in Medicine, 2021
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.
Ting KR et al.
Hereditary Cancer in Clinical Practice, 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
Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers.
Dreijerink KMA et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.
Xekouki P et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.
Amodru V et al.
Head & Neck, 2019
Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
Hong A et al.
Internal Medicine Journal, 2019
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
Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.
Bernardo-Castiñeira C et al.
Head & Neck, 2019
SDHD gene mutation in Mexican population with carotid body tumor.
Enríquez-Vega ME et al.
Cirugia Y Cirujanos, 2019
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
Shulskaya MV et al.
The International Journal of Neuroscience, 2018
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
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.
Neumann HP et al.
Endocrine-related Cancer, 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
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
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.
den Dunnen JT
Current Protocols in Human Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.
Michałowska I et al.
Polish Journal of Radiology, 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
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
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Evenepoel L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Alston CL et al.
Human Genetics, 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
Models of parent-of-origin tumorigenesis in hereditary paraganglioma.
Hoekstra AS et al.
Seminars in Cell & Developmental Biology, 2015
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Papathomas TG et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.
Menara M et al.
The Journal of Clinical Endocrinology and Metabolism, 2015