Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1

(2017) Laura Gieldon et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

PheoSeq

(2017) Maria Currás-Freixes et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Molecular Pathways: Isocitrate Dehydrogenase Mutations in Cancer

(2016) O. Clark et al.   CLINICAL CANCER RESEARCH

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma

(2016) Aidan Flynn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas

(2016) Susan Richter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

(2016) Rodrigo A. Toledo et al.   Nature Reviews Endocrinology

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

(2016) Andreas Rump et al.   PLoS Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

(2015) Alberto Cascón et al.   JNCI-Journal of the National Cancer Institute

Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

(2015) Alberto Cascón et al.   JNCI-Journal of the National Cancer Institute

Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications

(2015) Alessio Imperiale et al.   NEOPLASIA

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

(2014) Rodrigo A Toledo et al.   ENDOCRINE-RELATED CANCER

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

(2014) Lucie Evenepoel et al.   GENETICS IN MEDICINE

GermlineFHMutations Presenting With Pheochromocytoma

(2014) Graeme R. Clark et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Krebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency

(2014) Susan Richter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline

(2014) Jacques W. M. Lenders et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Paraganglioma and phaeochromocytoma: from genetics to personalized medicine

(2014) Judith Favier et al.   Nature Reviews Endocrinology

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

(2013) Eric Letouzé et al.   CANCER CELL

Simultaneous liquid chromatography tandem mass spectrometric determination of urinary free metanephrines and catecholamines, with comparisons of free and deconjugated metabolites

(2013) Mirko Peitzsch et al.   CLINICA CHIMICA ACTA

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

(2013) Luis Jaime Castro-Vega et al.   HUMAN MOLECULAR GENETICS

Rare insights into cancer biology

(2013) J Adam et al.   ONCOGENE

Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

(2012) Paraskevi Xekouki et al.   ENDOCRINE-RELATED CANCER

Fumaric aciduria: an overview and the first Brazilian case report

(2010) Gabriella Allegri et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Isocitrate Dehydrogenase Mutations Are Rare in Pheochromocytomas and Paragangliomas

(2009) José Gaal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE