Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

(2012) N. Burnichon et al.   CLINICAL CANCER RESEARCH

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

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

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

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

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

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands

(2011) EF Hensen et al.   CLINICAL GENETICS

GENETICS IN ENDOCRINOLOGY: The genetics of phaeochromocytoma: using clinical features to guide genetic testing

(2011) Mariam Jafri et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

(2011) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

(2011) Ying Ni et al.   HUMAN MOLECULAR GENETICS

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

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

(2010) Frederik J Hes et al.   BMC Medical Genetics

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Are we overestimating the penetrance of mutations in SDHB?

(2010) Francesca Schiavi et al.   HUMAN MUTATION

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

Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

(2009) H. P.H. Neumann et al.   CANCER RESEARCH

Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients

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

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

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

(2009) Nelly Burnichon 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

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

Germline SDHB Mutations and Familial Renal Cell Carcinoma

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

PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

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