Cornelia De Lange Syndrome Latest Advances

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Journal: Cureus

Published: November 08, 2025

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

Journal: bioRxiv : the preprint server for biology

Published: October 03, 2025

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

Journal: International journal of molecular sciences

Published: September 17, 2025

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Journal: Children (Basel, Switzerland)

Published: September 17, 2025

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Journal: Frontiers in endocrinology

Published: August 19, 2025

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Journal: Genes

Published: August 14, 2025

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics.

Journal: Annals of medicine and surgery (2012)

Published: July 31, 2025

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Journal: Frontiers in genetics

Published: July 21, 2025

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Journal: bioRxiv : the preprint server for biology

Published: June 06, 2025

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Journal: Seizure

Published: April 27, 2025

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

Journal: Biomedical reports

Published: April 25, 2025

Filters

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics.

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics.

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.