4.4 Review

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Related references

Note: Only part of the references are listed.
Article Dermatology

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

Laura Zinnamosca et al.

ARCHIVES OF DERMATOLOGICAL RESEARCH (2011)

Article Oncology

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

Henricus P. M. Kunst et al.

CLINICAL CANCER RESEARCH (2011)

Review Endocrinology & Metabolism

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

Shoulei Jiang et al.

ENDOCRINOLOGY (2011)

Article Endocrinology & Metabolism

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma

Nelly Burnichon et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)

Article Endocrinology & Metabolism

Germline Mutations of the TMEM127 Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites

Hartmut P. H. Neumann et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Endocrinology & Metabolism

SDHA Immunohistochemistry Detects Germline SDHA Gene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

Esther Korpershoek et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Genetics & Heredity

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

Inaki Comino-Mendez et al.

NATURE GENETICS (2011)

Article Endocrinology & Metabolism

Pheochromocytomas: The (pseudo)-hypoxia hypothesis

Judith Favier et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Peripheral Vascular Disease

Genetic Testing for Pheochromocytoma

David Karasek et al.

CURRENT HYPERTENSION REPORTS (2010)

Article Oncology

Update multiple endocrine neoplasia type 2

Friedhelm Raue et al.

FAMILIAL CANCER (2010)

Article Biochemistry & Molecular Biology

SDHA is a tumor suppressor gene causing paraganglioma

Nelly Burnichon et al.

HUMAN MOLECULAR GENETICS (2010)

Article Medicine, General & Internal

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

Li Yao et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2010)

Article Endocrinology & Metabolism

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

N. van Duinen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Review Endocrinology & Metabolism

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

S. G. Waguespack et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Cell Biology

Succinate dehydrogenase - Assembly, regulation and role in human disease

Jared Rutter et al.

MITOCHONDRION (2010)

Article Oncology

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

Jean-Pierre Bayley et al.

LANCET ONCOLOGY (2010)

Article Genetics & Heredity

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Yuejuan Qin et al.

NATURE GENETICS (2010)

Review Surgery

Phaeochromocytomas and sympathetic paragangliomas

B. -J. Petri et al.

BRITISH JOURNAL OF SURGERY (2009)

Review Oncology

Metabolic transformation in cancer

Daniel A. Tennant et al.

CARCINOGENESIS (2009)

Article Endocrinology & Metabolism

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

Robert Kopetschke et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2009)

Article Endocrinology & Metabolism

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

A. Cascon et al.

HORMONE AND METABOLIC RESEARCH (2009)

Article Endocrinology & Metabolism

The MEN1 Gene and Pituitary Tumours

Sunita K. Agarwal et al.

HORMONE RESEARCH (2009)

Article Endocrinology & Metabolism

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

Carsten C. Boedeker et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients

Alberto Cascon et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

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

Massimo Mannelli et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

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

Nelly Burnichon et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Dermatology

Neurofibromatosis type 1

Kevin P. Boyd et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2009)

Article Multidisciplinary Sciences

The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

Judith Favier et al.

PLOS ONE (2009)

Article Endocrinology & Metabolism

SDHC mutation in an elderly patient without familial antecedents

Elena Lopez-Jimenez et al.

CLINICAL ENDOCRINOLOGY (2008)

Article Biochemistry & Molecular Biology

TORC1 is essential for NF1-associated malignancies

Cory M. Johannessen et al.

CURRENT BIOLOGY (2008)

Article Biochemistry & Molecular Biology

KIF1Bβ functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death

Arasambattu K. Munirajan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Endocrinology & Metabolism

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation

Pascal Pigny et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Oncology

Germline SDHB mutations and familial renal cell carcinoma

Christopher Ricketts et al.

JOURNAL OF THE NATIONAL CANCER INSTITUTE (2008)

Article Medicine, General & Internal

Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

Charline Ladroue et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Multidisciplinary Sciences

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

Jidong Zhu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Surgery

Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients

Jose M. Rodriguez et al.

WORLD JOURNAL OF SURGERY (2008)

Article Endocrinology & Metabolism

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

Mariola Peczkowska et al.

NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2008)

Review Oncology

The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer

William G. Kaelin

NATURE REVIEWS CANCER (2008)

Review Genetics & Heredity

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

H. Kehrer-Sawatzki et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Surgery

Pheochromocytoma penetrance varies by RET mutation in MEN 2A

Frank J. Quayle et al.

SURGERY (2007)

Review Oncology

Pheochromocytoma: an update on genetics and management

Asterios Karagiannis et al.

ENDOCRINE-RELATED CANCER (2007)

Letter Medicine, General & Internal

Familial gastrointestinal stromal tumors and germ-line mutations

Sarah R. McWhinney et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Genetics & Heredity

Genetic screening for pheochromocytoma:: should SDHC gene analysis be included?

M. Mannelli et al.

JOURNAL OF MEDICAL GENETICS (2007)

Review Biochemistry & Molecular Biology

The role of hypoxia-inducible factors in cancer

M. A. Maynard et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2007)

Review Biochemistry & Molecular Biology

Roles of the Raf/MEK/ERK pathway in cell growth, malignant transformation and drug resistance

James A. McCubrey et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2007)

Letter Medicine, General & Internal

Somatic SDHB mutation in an extraadrenal pheochromocytoma

Francien H. van Nederveen et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Endocrinology & Metabolism

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1

Birke Bausch et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Review Oncology

The diagnosis and management of malignant phaeochromocytoma and paraganglioma

Alexandra Chrisoulidou et al.

ENDOCRINE-RELATED CANCER (2007)

Article Endocrinology & Metabolism

Expression of HIF-1α, HIF-2α (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations

Patrick J. Pollard et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Endocrinology & Metabolism

Phaeochromocytomas presenting as acute crises after beta blockade therapy

L. Sibal et al.

CLINICAL ENDOCRINOLOGY (2006)

Article Endocrinology & Metabolism

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes

DE Benn et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Multidisciplinary Sciences

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

MJ Percy et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Clinical Neurology

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

R Horvath et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)

Review Oncology

Von Hippel-Lindau disease and endocrine turnour susceptibility

Emma R. Woodward et al.

ENDOCRINE-RELATED CANCER (2006)

Article Oncology

Genetic testing in pheochromocytoma or functional paraganglioma

L Amar et al.

JOURNAL OF CLINICAL ONCOLOGY (2005)

Article Medicine, General & Internal

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

F Schiavi et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)

Article Multidisciplinary Sciences

The NF1 tumor suppressor critically regulates TSC2 and mTOR

CM Johannessen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Review Oncology

RET and neuroendocrine tumors

M Ichihara et al.

CANCER LETTERS (2004)

Article Biochemistry & Molecular Biology

The RET and TRKA pathways collaborate to regulate neuroblastoma differentiation

S Peterson et al.

ONCOGENE (2004)

Article Medicine, General & Internal

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

HPH Neumann et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)

Article Genetics & Heredity

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

S Vanharanta et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

Article Endocrinology & Metabolism

JunD-Menin interaction regulates c-Jun-mediated AP-1 transactivation

Y Ikeo et al.

ENDOCRINE JOURNAL (2004)

Correction Medicine, General & Internal

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations (vol 292, pg 943, 2004)

HPH Neumann

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)

Review Biochemistry & Molecular Biology

The pressure rises: update on the genetics of phaeochromocytoma

ER Maher et al.

HUMAN MOLECULAR GENETICS (2002)

Review Oncology

The phosphatidylinositol 3-kinase-AKT pathway in human cancer

I Vivanco et al.

NATURE REVIEWS CANCER (2002)

Article Medicine, General & Internal

Germ-line mutations in nonsyndromic pheochromocytoma.

HPH Neumann et al.

NEW ENGLAND JOURNAL OF MEDICINE (2002)

Article Genetics & Heredity

Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad

JA Carney et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Endocrinology & Metabolism

Differential diagnosis of pheochromocytomas and paragangliomas

AM McNicol

ENDOCRINE PATHOLOGY (2001)

Article Endocrinology & Metabolism

Benign paragangliomas: Clinical presentation and treatment outcomes in 236 patients

D Erickson et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2001)

Review Endocrinology & Metabolism

Multiple endocrine neoplasia type 1: new clinical and basic findings

DH Schussheim et al.

TRENDS IN ENDOCRINOLOGY AND METABOLISM (2001)

Article Medicine, General & Internal

Germline SDHD mutation in familial phaeochromocytoma

D Astuti et al.

LANCET (2001)

Article Endocrinology & Metabolism

Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas

BU Bender et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)

Article Medicine, General & Internal

Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland

AR McNeil et al.

AUSTRALIAN AND NEW ZEALAND JOURNAL OF MEDICINE (2000)

Article Genetics & Heredity

Mutations in SDHC cause autosomal dominant paraganglioma, type 3

S Niemann et al.

NATURE GENETICS (2000)

Article Biochemistry & Molecular Biology

Signaling through Ras is essential for ret oncogene-induced cell differentiation in PC12 cells

D Califano et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)

Article Multidisciplinary Sciences

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

BE Baysal et al.

SCIENCE (2000)

Article Biochemistry & Molecular Biology

Transforming ability of MEN2A-RET requires activation of the phosphatidylinositol 3-kinase/AKT signaling pathway

C Segouffin-Cariou et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)