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Article

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

1 Jan 1995

Abstract excerpt

The region commonly deleted in DiGeorge syndrome (DGS) has been localized at 22q11.1-q11.2 with the aid of a high resolution banding technique. A 22q11 specific plasmid library was constructed with a microdissection and microcloning method. Dosage analysis proved three of 144 randomly selected microclones to detect hemizygosity in two patients with DGS. Two of the clones were found to contain independent...

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

Identifiers

PMID: 7633402
DOI: 10.1093/hmg/4.4.541

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolation and characterization of a novel gene deleted in DiGeorge syndromePMID 7633402Read ↗

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGHSemantic proximity Read ↗

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11Semantic proximity Read ↗

A Novel 22q11.2 Microdeletion in DiGeorge SyndromeSemantic proximity Read ↗

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Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome PhenotypeSemantic proximity Read ↗

A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.Semantic proximity Read ↗

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.Semantic proximity Read ↗

Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs.Semantic proximity Read ↗

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)Semantic proximity Read ↗

The evaluation of DiGeorge syndrome gene deletion using molecular cytogenetic techniquesSemantic proximity Read ↗

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.Semantic proximity Read ↗

High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.Semantic proximity Read ↗

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