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

De novo microduplication at 22q11.21 in a patient with VACTERL association

17 Sept 2010

Abstract excerpt

No abstract is available from the source.

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 Esophageal and GI Pathology
Share to Tracheal and airway disorders

Source

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

Identifiers

PMID: 20849991
DOI: 10.1016/j.ejmg.2010.09.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo microduplication at 22q11.21 in a patient with VACTERL associationPMID 20849991Read ↗

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationSemantic proximity Read ↗

Phenotypic diversity of patients diagnosed with VACTERL association.Semantic proximity Read ↗

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionSemantic proximity Read ↗

Evidence for inheritance in patients with VACTERL associationSemantic proximity Read ↗

A novel presentation of a rare chromosome 21q22.2 deletion.Semantic proximity Read ↗

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.Semantic proximity Read ↗

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.Semantic proximity Read ↗

Novel microdeletion syndromes.Semantic proximity Read ↗

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.Semantic proximity Read ↗

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12Semantic proximity Read ↗

[Molecular basis of microdeletion 22q11].Semantic proximity Read ↗

Pure familial 6q21q22.1 duplication in two generationsSemantic proximity Read ↗

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