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Article

Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis.

BMC genomics - 14 Jan 2016

Mehrian-Shai Ruty, Yalon Michal, Moshe Itai, Barshack Iris, Nass Dvorah, Jacob Jasmine, Dor Chen, Reichardt Juergen K V, Constantini Shlomi, Toren Amos

Abstract excerpt

BACKGROUND: The genetic mechanisms underlying hemangioblastoma development are still largely unknown. We used high-resolution single nucleotide polymorphism microarrays and droplet digital PCR analysis to detect copy number variations (CNVs) in total of 45 hemangioblastoma tumors. RESULTS: We identified 94 CNVs with a median of 18 CNVs per sample. The most frequently gained regions were on chromosomes 1 (p36.32)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26768750
DOI: 10.1186/s12864-016-2370-6
PMCID: PMC4712606

Genes

EGFR
PRDM16
PTPN11
CHEK2
FGFR1
FLT3
FOXP1
GPC3
GPHN
HOXA9
HOXC11
HOXC13
HOXD11
HOXD13
IKZF1

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.

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