Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

The Journal of clinical endocrinology and metabolism - 1 Jul 2014

Welander Jenny, Andreasson Adam, Juhlin C Christofer, Wiseman Roger W, Bäckdahl Martin, Höög Anders, Larsson Catharina, Gimm Oliver, Söderkvist Peter

Abstract excerpt

CONTEXT: Pheochromocytomas and paragangliomas have a highly diverse genetic background, with a third of the cases carrying a germline mutation in 1 of 14 identified genes. OBJECTIVE: This study aimed to evaluate next-generation sequencing for more efficient genetic testing of pheochromocytoma and paraganglioma and to establish germline and somatic mutation frequencies for all known susceptibility genes. DESIGN: A...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Gland Neoplasms
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Germ-Line Mutation

Share to High-Throughput Nucleotide Sequencing

Share to Paraganglioma

Share to Pheochromocytoma

Share to Sweden

Source

Open in PubMed Open full text

Identifiers

PMID: 24694336
DOI: 10.1210/jc.2013-4375
PMCID: PMC5393486

Genes

EPAS1
MAX
EGLN1
RET
SDHA
SDHB
VHL
MEN1
SDHAF2
SDHC
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.PMID 24694336Read ↗

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.Semantic proximity Read ↗

Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosisSemantic proximity Read ↗

Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.Semantic proximity Read ↗

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.Semantic proximity Read ↗

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.Semantic proximity Read ↗

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.Semantic proximity Read ↗

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.Semantic proximity Read ↗

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experienceSemantic proximity Read ↗

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.Semantic proximity Read ↗

Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.Semantic proximity Read ↗

Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paragangliomaSemantic proximity Read ↗

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.