Associated Papers
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.
Guha A et al.
Frontiers in Endocrinology, 2023
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y et al.
Journal of Medical Genetics, 2021
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM2_ESM.xlsx › Table_S6
Succinate dehydrogenase subunit D and succinate dehydrogenase subunit B mutation analysis in canine phaeochromocytoma and paraganglioma.
Holt DE et al.
Journal of Comparative Pathology, 2014
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
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
Astrom K et al.
Human Genetics, 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
Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann HP et al.
The New England Journal of Medicine, 2002
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