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

The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

American journal of medical genetics. Part A - 1 Jul 2011

Dasouki Majed J, Lushington Gerald H, Hovanes Karine, Casey James, Gorre Mereceds

Abstract excerpt

The human 3q29 microdeletion syndrome is associated with mild facial dysmorphism, developmental delay and variable congenital malformations. We report three new unrelated patients with this syndrome. We also performed in silico RNA binding analysis in silico on the 3q29 critical region genes. Several genes within this genomic region including DLG1 and RNF168 are predicted to bind RNA. While recessive mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 3

Share to Comparative Genomic Hybridization

Share to Syndrome

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 21626679
DOI: 10.1002/ajmg.a.34080
PMCID: PMC3312009

Genes

DLG1

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 · 10 closest

The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.PMID 21626679Read ↗

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.Semantic proximity Read ↗

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.Semantic proximity Read ↗

Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping.Semantic proximity Read ↗

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Semantic proximity Read ↗

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.Semantic proximity Read ↗

Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c.Semantic proximity Read ↗

Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.Semantic proximity Read ↗

pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24).Semantic proximity Read ↗

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9.Semantic proximity Read ↗

Identification of a novel insertion mutation in GATA3 with HDR syndrome.Semantic proximity Read ↗

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