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

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.

Human genetics - 1 Sept 2007

Jackson Eric M, Shaikh Tamim H, Gururangan Sridharan, Jones Marilyn C, Malkin David, Nikkel Sarah M, Zuppan Craig W, Wainwright Luanne M, Zhang Fan, Biegel Jaclyn A

Abstract excerpt

Malignant rhabdoid tumors are highly aggressive neoplasms found primarily in infants and young children. The majority of rhabdoid tumors arise as a result of homozygous inactivating deletions or mutations of the INI1 gene located in chromosome band 22q11.2. Germline mutations of INI1 predispose to the development of rhabdoid tumors of the brain, kidney and extra-renal tissues, consistent with its function as a...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal Proteins, Non-Histone
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

Share to In Situ Hybridization, Fluorescence

Share to Oligonucleotide Array Sequence Analysis

Share to Rhabdoid Tumor

Share to Sequence Deletion

Share to SMARCB1 Protein

Source

Identifiers

PMID: 17541642
DOI: 10.1007/s00439-007-0386-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.PMID 17541642Read ↗

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.Semantic proximity Read ↗

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.Semantic proximity Read ↗

Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays.Semantic proximity Read ↗

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.Semantic proximity Read ↗

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors.Semantic proximity Read ↗

Narrowing the critical region for a rhabdoid tumor locus in 22q11Semantic proximity Read ↗

GermlineINI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumorSemantic proximity Read ↗

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.Semantic proximity Read ↗

Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Semantic proximity Read ↗

High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene.Semantic proximity Read ↗

Chromosome mechanisms and INI1 inactivation in human and mouse rhabdoid tumors.Semantic proximity Read ↗

A common molecular basis for rearrangement disorders on chromosome 22q11Semantic proximity Read ↗

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