Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
39945023 (PubMed )
Supplement: 2024_286887_KOROTEV_SUPPL.pdf
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
Koeller DR et al.
Cancers, 2025
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
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
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B et al.
Jama Oncology, 2017
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A et al.
Orphanet Journal of Rare Diseases, 2014
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE et al.
Journal of Molecular Medicine (berlin, Germany), 2001
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