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

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism.

Journal of applied genetics - 1 Jan 2010

Simioni M, Freitas E Lopes, Vieira T Paiva, Lopes-Cendes I, Gil-da-Silva-Lopes V Lúcia

Abstract excerpt

Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Hypertelorism

Share to Polymorphism, Single Nucleotide

Share to Sequence Deletion

Share to Thioredoxins

Source

Identifiers

PMID: 20453311
DOI: 10.1007/BF03195732

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism.PMID 20453311Read ↗

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.Semantic proximity Read ↗

6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.Semantic proximity Read ↗

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Semantic proximity Read ↗

Role of TBX1 in human del22q11.2 syndrome.Semantic proximity Read ↗

[Genetic and clinical characteristics of 22q11.2 deletion syndrome].Semantic proximity Read ↗

Head and neck manifestations of 22q11.2 deletion syndromesSemantic proximity Read ↗

Developmental perspectives on copy number abnormalities of the 22q11.2 region.Semantic proximity Read ↗

The 22q11.2 deletion in African‐American patients: An underdiagnosed population?Semantic proximity Read ↗

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.Semantic proximity Read ↗

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.Semantic proximity Read ↗

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