Cornelia De Lange Syndrome Latest Advances

Find the Latest Research About Cornelia De Lange Syndrome

Last Updated: 06/30/2026

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Found 1105 publications

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.

Journal: Cureus

Published: May 14, 2026

Idiopathic retinal vasculitis with neovascularisation in Cornelia de Lange syndrome associated with a novel HDAC8 variant.

Idiopathic retinal vasculitis with neovascularisation in Cornelia de Lange syndrome associated with a novel HDAC8 variant.

Journal: Ophthalmic genetics

Published: May 13, 2026

Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.

Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.

Journal: Fukushima journal of medical science

Published: April 26, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Journal: Congenital anomalies

Published: February 20, 2026

Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.

Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.

Journal: Early human development

Published: February 20, 2026

A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

Journal: Clinical biochemistry

Published: February 12, 2026

Cohesin variants associated with human reproductive and developmental disorders.

Cohesin variants associated with human reproductive and developmental disorders.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: January 29, 2026

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Journal: European journal of pediatrics

Published: January 23, 2026

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Journal: Genes

Published: January 10, 2026

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Journal: Research square

Published: January 09, 2026

Showing 1-12 of 1,105

Last Updated: 06/30/2026