Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma

(2011) H. P. M. Kunst et al.   CLINICAL CANCER RESEARCH

Measurements of Plasma Methoxytyramine, Normetanephrine, and Metanephrine as Discriminators of Different Hereditary Forms of Pheochromocytoma

(2011) G. Eisenhofer et al.   CLINICAL CHEMISTRY

Minireview: The Busy Road to Pheochromocytomas and Paragangliomas Has a New Member, TMEM127

(2011) Shoulei Jiang et al.   ENDOCRINOLOGY

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

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

(2011) M. A. Pantaleo et al.   JNCI-Journal of the National Cancer Institute

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

(2010) Laura Zinnamosca et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Pheochromocytomas: The (pseudo)-hypoxia hypothesis

(2010) Judith Favier et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Testing for Pheochromocytoma

(2010) David Karasek et al.   CURRENT HYPERTENSION REPORTS

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

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma

(2010) Nelly Burnichon et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Update multiple endocrine neoplasia type 2

(2010) Friedhelm Raue et al.   Familial Cancer

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes

(2010) Anthony J. Gill et al.   HUMAN PATHOLOGY

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

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

Mutations of the Metabolic GenesIDH1,IDH2, andSDHAF2Are Not Major Determinants of the Pseudohypoxic Phenotype of Sporadic Pheochromocytomas and Paragangliomas

(2010) Li Yao et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Current Review of the Etiology, Diagnosis, and Treatment of Pediatric Pheochromocytoma and Paraganglioma

(2010) S. G. Waguespack et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

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

Succinate dehydrogenase – Assembly, regulation and role in human disease

(2010) Jared Rutter et al.   MITOCHONDRION

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

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

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

The North American Neuroendocrine Tumor Society Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors

(2010) Herbert Chen et al.   PANCREAS

Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis

(2009) Erik F Hensen et al.   BMC Medical Genomics

Phaeochromocytomas and sympathetic paragangliomas

(2009) B.-J. Petri et al.   BRITISH JOURNAL OF SURGERY

Metabolic transformation in cancer

(2009) D. A. Tennant et al.   CARCINOGENESIS

Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients

(2009) Z. Erlic et al.   CLINICAL CANCER RESEARCH

Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma

(2009) Robert Kopetschke et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Rationalization of Genetic Testing in Patients with Apparently Sporadic Pheochromocytoma/Paraganglioma

(2009) A. Cascón et al.   HORMONE AND METABOLIC RESEARCH

The MEN1 Gene and Pituitary Tumours

(2009) Sunita K. Agarwal et al.   Hormone Research in Paediatrics

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations inSDHBandSDHD

(2009) Christopher J. Ricketts et al.   HUMAN MUTATION

Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2

(2009) Carsten C. Boedeker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients

(2009) Alberto Cascón et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinically Guided Genetic Screening in a Large Cohort of Italian Patients with Pheochromocytomas and/or Functional or Nonfunctional Paragangliomas

(2009) Massimo Mannelli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas

(2009) Nelly Burnichon et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Increased Urinary Excretion of 3-Methoxytyramine in Patients with Head and Neck Paragangliomas

(2009) N. van Duinen 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

Neurofibromatosis type 1

(2009) Kevin P. Boyd et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

(2009) Judith Favier et al.   PLoS One

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

(2009) H.-X. Hao et al.   SCIENCE

SDHCmutation in an elderly patient without familial antecedents

(2008) Elena López-Jiménez et al.   CLINICAL ENDOCRINOLOGY

Clinical manifestations of familial paraganglioma and phaeochromocytomas insuccinate dehydrogenase B(SDH-B) gene mutation carriers

(2008) Umasuthan Srirangalingam et al.   CLINICAL ENDOCRINOLOGY

TORC1 Is Essential for NF1-Associated Malignancies

(2008) Cory M. Johannessen et al.   CURRENT BIOLOGY

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

KIF1Bβ Functions as a Haploinsufficient Tumor Suppressor Gene Mapped to Chromosome 1p36.2 by Inducing Apoptotic Cell Death

(2008) Arasambattu K. Munirajan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Paraganglioma after Maternal Transmission of a Succinate Dehydrogenase Gene Mutation

(2008) Pascal Pigny et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline SDHB Mutations and Familial Renal Cell Carcinoma

(2008) C. Ricketts et al.   JNCI-Journal of the National Cancer Institute

c-Myc Inhibits Ras-Mediated Differentiation of Pheochromocytoma Cells by Blocking c-Jun Up-Regulation

(2008) J. P. Vaque et al.   MOLECULAR CANCER RESEARCH

PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

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

Activation of PI3K/Akt and MAPK pathways regulates Myc-mediated transcription by phosphorylating and promoting the degradation of Mad1

(2008) J. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prognostic indicators of malignancy in adrenal pheochromocytomas: clinical, histopathologic, and cell cycle/apoptosis gene expression analysis

(2008) Vivian E. Strong et al.   SURGERY

Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients

(2008) Jose M. Rodriguez et al.   WORLD JOURNAL OF SURGERY

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

(2008) Mariola Pęczkowska et al.   Nature clinical practice. Endocrinology & metabolism

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

(2007) Manuel C. Lemos et al.   HUMAN MUTATION