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
Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management.
Wang P et al.
World Journal of Surgical Oncology, 2025
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).
Stawarz K et al.
World Journal of Surgical Oncology, 2024
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.
Saie C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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
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
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
Burnichon N et al.
Journal of Medical Genetics, 2017
Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.
Yu W et al.
Human Molecular Genetics, 2015
Succinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics.
Her YF et al.
International Journal of Endocrinology, 2015
A new twist in neuroendocrine tumor research: Pacak-Zhuang syndrome, HIF-2α as the major player in its pathogenesis and future therapeutic options.
Jochmanova I et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2014
Mapping of succinate dehydrogenase losses in 2258 epithelial neoplasms.
Miettinen M et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2014
A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma-pheochromocytoma syndrome.
Prasad C et al.
Sage Open Medical Case Reports, 2014
The role of complex II in disease.
Hoekstra AS et al.
Biochimica Et Biophysica Acta, 2013
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
Piccini V et al.
Endocrine-related Cancer, 2012
Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data.
Letouzé E et al.
Plos One, 2012
Genetics of pheochromocytomas and paragangliomas.
Opocher G et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Allelic loss of chromosomes 8 and 19 in MENX-associated rat pheochromocytoma.
Shyla A et al.
International Journal of Cancer, 2010
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
Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.
Kim MS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Genetics of chromaffin tumors.
Gimenez-Roqueplo AP
Expert Review of Endocrinology & Metabolism, 2009
[Genetic diagnosis of pheochromocytoma].
Takekoshi K et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2008
Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.
Papaspyrou K et al.
Head & Neck, 2008
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.
Pigny P et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Analysis of SDHD and MMP12 in an affected solar keratosis and control cohort.
Lintell NA et al.
Advances in Experimental Medicine and Biology, 2007
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.
Mora J et al.
Pediatric Blood & Cancer, 2006
Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma.
Isobe K 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
Mitochondrial tumour suppressors: a genetic and biochemical update.
Gottlieb E et al.
Nature Reviews. Cancer, 2005
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
Pollard PJ et al.
Human Molecular Genetics, 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
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
Favier J et al.
Hormone Research, 2005
K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.
McDonnell CM et al.
Clinical Endocrinology, 2004
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
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Neumann HP et al.
Jama, 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
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
Astrom K et al.
Human Genetics, 2003
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Eng C et al.
Nature Reviews. Cancer, 2003
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
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