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

Germline and Somatic<i>DICER1</i>Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease

13 May 2014

Abstract excerpt

CONTEXT: Pituitary blastoma causing Cushing's syndrome in infancy is very rare, and its molecular pathomechanism is not well understood. OBJECTIVE: Our objective was to identify genetic changes of a pituitary blastoma causing infantile-onset Cushing's syndrome in a Thai girl without a family history of cancers. METHODS: Genomic DNA from both leukocytes and tumor tissues was used for whole-exome sequencing (WES)...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Diaphragmatic Hernia Studies
Share to Growth Hormone and Insulin-like Growth Factors
Share to Pituitary Gland Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24823459
DOI: 10.1210/jc.2014-1016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline and Somatic<i>DICER1</i>Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's DiseasePMID 24823459Read ↗

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.Semantic proximity Read ↗

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?Semantic proximity Read ↗

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.Semantic proximity Read ↗

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.Semantic proximity Read ↗

Molecular characterization of DICER1-mutated pituitary blastoma.Semantic proximity Read ↗

DICER1 Mutations in the Era of Expanding Integrative Clinical Sequencing in Pediatric OncologySemantic proximity Read ↗

DICER1 syndrome in a young adult with pituitary blastoma.Semantic proximity Read ↗

Congenital Pleuropulmonary Blastoma in a Newborn with a Variant of Uncertain Significance in DICER1 Evaluated by RNA-sequencingSemantic proximity Read ↗

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime RiskSemantic proximity Read ↗

DICER1 Syndrome with an Intronic Germline Variant Causing Splice AlterationSemantic proximity Read ↗

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.Semantic proximity Read ↗

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working GroupSemantic proximity Read ↗

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