Roberts Syndrome Latest Advances

Roberts syndrome with cystic hygroma: a rare clinical presentation of a rare syndrome.

Journal: BMJ case reports

Published: September 05, 2025

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Journal: Clinical dysmorphology

Published: July 14, 2025

Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: A case report.

Journal: World journal of clinical pediatrics

Published: June 17, 2025

Functional Activities of Cohesin Proteins Can Be Altered by Chemical Chaperones.

Journal: The protein journal

Published: June 01, 2025

Analysis of combinatorial cohesin subunit gene deletions in budding yeast.

Journal: Genetics

Published: April 04, 2025

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: October 14, 2024

A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.

Journal: Acta medica Philippina

Published: July 05, 2024

Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.

Journal: Genetics

Published: June 10, 2024

Role of point-of-care ultrasound in the anesthetic management of Roberts syndrome for cleft surgery.

Journal: Journal of anaesthesiology, clinical pharmacology

Published: May 19, 2024

Associated Anomalies in Radial Ray Deficiency.

Journal: American journal of medical genetics. Part A

Published: February 06, 2024

Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.

Journal: Nature communications

Published: September 01, 2023

Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child.

Journal: Frontiers in genetics

Published: August 31, 2023