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

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

American journal of medical genetics. Part A - 1 Apr 2020

Sewani Maham, Nugent Kimberly, Blackburn Patrick R, Tarnowski Jessica M, Hernandez-Garcia Andres, Amiel Jeanne, Whalen Sandra, Keren Boris, Courtin Thomas, Rosenfeld Jill A, Yang Yaping, Patterson Marc C, Pichurin Pavel, McLean Scott D, Scott Daryl A

Abstract excerpt

The non-POU domain containing, octamer-binding gene, NONO, is located on chromosome Xq13.1 and encodes a member of a small family of RNA and DNA binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Hemizygous loss-of-function variants in NONO have been shown to cause mental retardation, X-linked, syndromic 34 in males. Features of this disorder can...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to DNA-Binding Proteins

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

Share to Gestational Age

Share to Heart Defects, Congenital

Share to Hemizygote

Share to Intellectual Disability

Share to RNA-Binding Proteins

Share to Syndrome

Source

Identifiers

PMID: 31883306
DOI: 10.1002/ajmg.a.61466

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.PMID 31883306Read ↗

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male FetusSemantic proximity Read ↗

A novel NONO nonsense variant in a fetus with renal abnormalitiesSemantic proximity Read ↗

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndromeSemantic proximity Read ↗

A Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a FetusSemantic proximity Read ↗

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.Semantic proximity Read ↗

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.Semantic proximity Read ↗

A novel NONO variant that causes developmental delay and cardiac phenotypes.Semantic proximity Read ↗

Saying “Yes” to NONO: A Target for Neuroblastoma Therapy?Semantic proximity Read ↗

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportSemantic proximity Read ↗

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.Semantic proximity Read ↗

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.Semantic proximity Read ↗

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Semantic proximity Read ↗

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