Angelo Selicorni

Como, Italy

Last Updated: 09/26/2026

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Found 160 publications

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Journal: Cell death discovery

Published: December 17, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Journal: Clinical genetics

Published: August 06, 2025

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Journal: American journal of medical genetics. Part A

Published: August 05, 2025

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Journal: American journal of medical genetics. Part A

Published: July 14, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Journal: American journal of medical genetics. Part A

Published: March 26, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

Identification of a different DNA methylation pattern for pain related genes in children with intellectual disability: a cross-sectional study.

Identification of a different DNA methylation pattern for pain related genes in children with intellectual disability: a cross-sectional study.

Journal: Italian journal of pediatrics

Published: January 24, 2025

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 16, 2024

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Journal: American journal of medical genetics. Part A

Published: October 09, 2024

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

Journal: Orphanet journal of rare diseases

Published: June 28, 2024

Showing 1-12 of 160

Last Updated: 09/26/2026