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

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

International journal of pediatric otorhinolaryngology - 1 Jan 2013

Widdershoven Josine C C, Bowser Mark, Sheridan Molly B, McDonald-McGinn Donna M, Zackai Elaine H, Solot Cynthia B, Kirschner Richard E, Beemer Frits A, Morrow Bernice E, Devoto Marcella, Emanuel Beverly S

Abstract excerpt

OBJECTIVE: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. METHODS: Patients from...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to DiGeorge Syndrome

Share to Hospitals, Pediatric

Share to Netherlands

Share to Sampling Studies

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 23121717
DOI: 10.1016/j.ijporl.2012.10.009
PMCID: PMC4098838

Genes

FGF10
TBX1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.PMID 23121717Read ↗

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.Semantic proximity Read ↗

Identification of microdeletions in candidate genes for cleft lip and/or palate.Semantic proximity Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.Semantic proximity Read ↗

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.Semantic proximity Read ↗

Screening of patients at risk for 22q11 deletion.Semantic proximity Read ↗

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Mapping of the chicken cleft primary palate mutation on chromosome 11 and sequencing of the 4.9 Mb linked region.Semantic proximity Read ↗

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.Semantic proximity Read ↗

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.Semantic proximity Read ↗

Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.Semantic proximity Read ↗

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