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Article

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

22 Oct 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23090011
DOI: 10.1007/s00109-012-0967-z

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A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paragangliomaPMID 23090011Read ↗

Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.Semantic proximity Read ↗

A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell disease.Semantic proximity Read ↗

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.Semantic proximity Read ↗

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.Semantic proximity Read ↗

Polycythemia and Paraganglioma With a Novel Somatic <i>HIF2A</i> Mutation in a MaleSemantic proximity Read ↗

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Pacak–Zhuang syndrome: a model providing new insights into tumor syndromesSemantic proximity Read ↗

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.Semantic proximity Read ↗

Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.Semantic proximity Read ↗

Nonmosaic somatic HIF2A mutations associated with late onset polycythemia‐paraganglioma syndrome: Newly recognized subclass of polycythemia‐paraganglioma syndromeSemantic proximity Read ↗

A Novel EPO Gene Mutation In a Family With Autosomal Dominant PolycythemiaSemantic proximity Read ↗

First Report of Bilateral Pheochromocytoma in the Clinical Spectrum of<i>HIF2A</i>-Related Polycythemia-Paraganglioma SyndromeSemantic proximity Read ↗

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