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

Two new mutations in the HIF2A gene associated with erythrocytosis

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

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

(2012) Jenny Welander et al.   HUMAN MOLECULAR GENETICS

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

(2012) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

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

The HIF Pathway and Erythrocytosis

(2011) Frank S. Lee et al.   Annual Review of Pathology-Mechanisms of Disease

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Identification and functional validation of CDH11, PCSK6 and SH3GL3 as novel glioma invasion-associated candidate genes

(2011) S. Delic et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas

(2010) Elena López-Jiménez et al.   MOLECULAR ENDOCRINOLOGY

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

(2010) Mark P Purdue et al.   NATURE GENETICS

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

(2009) R. van Wijk et al.   HAEMATOLOGICA

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

(2009) Francien H van Nederveen et al.   LANCET ONCOLOGY

Pomelo II: finding differentially expressed genes

(2009) E. R. Morrissey et al.   NUCLEIC ACIDS RESEARCH

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

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

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