Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma

TMEM127Screening in a Large Cohort of Patients with Pheochromocytoma and/or Paraganglioma

(2012) Nassera Abermil et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline Mutations of theTMEM127Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites

(2011) Hartmut P. H. Neumann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

(2011) Esther Korpershoek et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

(2010) D. Astuti et al.   ENDOCRINE-RELATED CANCER

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

(2010) Karin Frank-Raue et al.   HUMAN MUTATION

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

(2010) Li Yao et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

(2010) Jean-Pierre Bayley et al.   LANCET ONCOLOGY

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome

(2009) Zoran Erlic et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications

(2009) C. A. Stratakis et al.   JOURNAL OF INTERNAL MEDICINE

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

(2009) H.-X. Hao et al.   SCIENCE

Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association

(2009) Richard T. Kloos (Chair) et al.   THYROID

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

(2008) G. H Sakorafas et al.   ENDOCRINE-RELATED CANCER

The kinesin KIF1B  acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor

(2008) S. Schlisio et al.   GENES & DEVELOPMENT

A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors

(2008) I-Tien Yeh et al.   HUMAN GENETICS

PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

(2008) Charline Ladroue et al.   NEW ENGLAND JOURNAL OF MEDICINE