Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

HIF2Again-of-function mutations detected in duodenal gangliocytic paraganglioma

(2016) Zhengping Zhuang et al.   ENDOCRINE-RELATED CANCER

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis

(2016) Tzvetan Alaikov et al.   Hematology

Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma

(2015) I. Janssen et al.   CLINICAL CANCER RESEARCH

PHEOCHROMOCYTOMA AND PARAGANGLIOMA

(2015) Karel Pacak et al.   Endocrine Practice

Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas

(2015) David Taïeb et al.   JOURNAL OF NEURO-ONCOLOGY

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma

(2014) Jenny Welander et al.   ENDOCRINE-RELATED CANCER

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia

(2014) Chunzhang Yang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Ocular Manifestations of Hypoxia-Inducible Factor-2α Paraganglioma-Somatostatinoma-Polycythemia Syndrome

(2014) Karel Pacak et al.   OPHTHALMOLOGY

Polycythemia and Paraganglioma With a Novel Somatic HIF2A Mutation in a Male

(2014) H. Toyoda et al.   PEDIATRICS

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

(2013) C. Yang et al.   BLOOD

Regulation of erythropoiesis by hypoxia-inducible factors

(2013) Volker H. Haase   BLOOD REVIEWS

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas

(2013) Rodrigo A Toledo et al.   ENDOCRINE-RELATED CANCER

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range

(2013) S. Perrotta et al.   HAEMATOLOGICA

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

(2013) Iñaki Comino-Méndez et al.   HUMAN MOLECULAR GENETICS

First Report of Bilateral Pheochromocytoma in the Clinical Spectrum ofHIF2A-Related Polycythemia-Paraganglioma Syndrome

(2013) David Taïeb et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mosaicism inHIF2A-Related Polycythemia-Paraganglioma Syndrome

(2013) Alexandre Buffet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia

(2013) Karel Pacak et al.   JOURNAL OF CLINICAL ONCOLOGY

Hypoxia-Inducible Factor Signaling in Pheochromocytoma: Turning the Rudder in the Right Direction

(2013) I. Jochmanova et al.   JNCI-Journal of the National Cancer Institute

Neuroendocrine tumours: the role of imaging for diagnosis and therapy

(2013) Martijn van Essen et al.   Nature Reviews Endocrinology

Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma

(2013) Joakim Crona et al.   Endocrine Connections

Two new mutations in the HIF2A gene associated with erythrocytosis

(2012) Melanie J. Percy et al.   AMERICAN JOURNAL OF HEMATOLOGY

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

(2012) Felipe R. Lorenzo et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

HIF2AMutations in Paraganglioma with Polycythemia

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

(2012) Zhengping Zhuang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

(2011) Ying Ni et al.   HUMAN MOLECULAR GENETICS

Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma

(2010) G. Eisenhofer et al.   ENDOCRINE-RELATED CANCER

The VHL Tumor Suppressor: Master Regulator of HIF

(2009) Volker Haase   CURRENT PHARMACEUTICAL DESIGN

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

(2009) R. van Wijk et al.   HAEMATOLOGICA

Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline

(2009) Paul W. Furlow et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Approach to the Patient with Paraganglioma

(2009) Hartmut P. H. Neumann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Comparison of18F-Fluoro-L-DOPA,18F-Fluoro-Deoxyglucose, and18F-Fluorodopamine PET and123I-MIBG Scintigraphy in the Localization of Pheochromocytoma and Paraganglioma

(2009) Henri J. L. M. Timmers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Neuroendocrine Tumors and Tumor Syndromes in Childhood

(2009) JosÉ Gaal et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2  mutation

(2008) D. P. Gale et al.   BLOOD

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis

(2008) M. Martini et al.   HAEMATOLOGICA

A Gain-of-Function Mutation in theHIF2AGene in Familial Erythrocytosis

(2008) Melanie J. Percy et al.   NEW ENGLAND JOURNAL OF MEDICINE