PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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3. Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome
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6. 15 YEARS OF PARAGANGLIOMA: Pheochromocytoma, paraganglioma and genetic syndromes: a historical perspective
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7. Erythrocytosis due toPHD2Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics
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8. Hypoxic Adaptation in the Nervous System: Promise for Novel Therapeutics for Acute and Chronic Neurodegeneration
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9. Possible role of miRNAs in pheochromocytoma pathology - Signaling pathways interaction
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10. Pheochromocytoma: When to search a germline defect?
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11. A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review
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12. HIF2A germline–mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma
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13. Genetics of Pheochromocytomas and Paragangliomas
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14. Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma
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15. Genetics of pheochromocytoma and paraganglioma: New developments
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16. Hereditary gene mutations in Korean patients with isolated erythrocytosis
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17. A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
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18. Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome
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19. Genetics of Pheochromocytoma and Paraganglioma
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20. JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management
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21. Congenital and evolutionary modulations of hypoxia sensing and their erythroid phenotype
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22. Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism
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23. Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans
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24. PHD2Mutation and Congenital Erythrocytosis with Paraganglioma
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25. Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia
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26. Zebrafish mutants in egln1 display a hypoxic response and develop polycythemia
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27. A new twist in neuroendocrine tumor research: Pacak-Zhuang syndrome, HIF-2α as the major player in its pathogenesis and future therapeutic options
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28. Analysis of HIF-1a and its regulator, PHD2, in retroperitoneal sarcomas: clinico-pathologic implications
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29. Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia
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30. Concurrent heterozygous Von-Hippel–Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis
    Aurelio Negro, Gallia Graiani, Davide Nicoli, Enrico Farnetti, Bruno Casali, Ignazio Verzicco, Stefano Tedeschi, Angelo Ghirarduzzi, Valentina Cannone, Loredana De Marco et al. · 2019 · Journal of Hypertension
31. An Update on the Histology of Pheochromocytomas: How Does it Relate to Genetics?
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33. Heritable disorders of oxygen sensing
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34. Heritable disorders of oxygen sensing
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35. Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma
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36. Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma
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37. Genome editing and cancer therapy: handling the hypoxia-responsive pathway as a promising strategy
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38. Bronchial Paraganglioma with SDHB Deficiency
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39. Familial endocrine tumours: pheochromocytomas and extra-adrenal paragangliomas – an update
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40. Role of SDHAF2 and SDHD in von Hippel–Lindau Associated Pheochromocytomas
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41. Enzymes involved in hypoxia response : characterization of the in vivo role of HIF-P4H-2 in mouse heart, of a novel P4H in human and zebrafish and of the catalytic properties of FIH
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42. The clinical landscape of HIF2α inhibitors in oncology
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43. Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma
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44. Erythropoietin
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45. Massive Extra-adrenal Retroperitoneal Paraganglioma: Pre-operative Embolization and Resection
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46. Pheochromocytoma and multiple endocrine neoplasia syndromes
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47. Utility of next-generation sequencing in identifying congenital erythrocytosis in patients with idiopathic erythrocytosis
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48. Non-Susceptibility Gene Variants in Head and Neck Paragangliomas
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49. Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma
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54. Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában
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58. A Young Patient with Undiagnosed Polycythemia-Paraganglioma Syndrome: A Case Report
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60. Genetic Analysis of the PI3K/AKT/mTOR Signaling Pathway
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62. Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain
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