Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Shangguan H, Chen R. Shangguan H, et al. Front Pediatr. 2022 Jul 22;10:940294. doi: 10.3389/fped.2022.940294. eCollection 2022. Front Pediatr. 2022. PMID: 35935361 Free PMC article.
RESULTS: Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four variants (KMT2A c.7789C > T, ANKRD11 c.1757_1776del, KDM6A c.655-1G > A, and UBE2A c.439C > T) were novel. ...The average cli …
RESULTS: Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four v …
BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.
García-Gutiérrez P, García-Domínguez M. García-Gutiérrez P, et al. Front Mol Biosci. 2021 Jul 27;8:709232. doi: 10.3389/fmolb.2021.709232. eCollection 2021. Front Mol Biosci. 2021. PMID: 34386522 Free PMC article. Review.
Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11, most of which have no known direct association with cohesin. …
Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6 …