Associated Papers
A Novel Targeted Sequence for Chromosome 11p15.5 Maternal Loss in SDHD-Related Paragangliomas.
Lai HP et al.
Genes, Chromosomes & Cancer, 2026
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 2026
Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.
Jiang J et al.
Journal of Endocrinological Investigation, 2025
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Fagundes GFC et al.
European Journal of Endocrinology, 2025
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease.
White G et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
Somatic IDH1 Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas.
Li M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease.
Ogasawara T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.
Kolonko-Adamska M et al.
International Journal of Molecular Sciences, 2021
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Toledo RA
Endocrine-related Cancer, 2017
Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.
Welander J et al.
Endocrine-related Cancer, 2014
Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.
Papathomas TG et al.
Seminars in Diagnostic Pathology, 2013
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Comino-Méndez I et al.
Human Molecular Genetics, 2013
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
Toledo RA et al.
Endocrine-related Cancer, 2013
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013