Giuseppina Conteduca

Genoa, Italy

Last Updated: 09/26/2026

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Found 25 publications

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.

Journal: Frontiers in immunology

Published: April 01, 2026

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Journal: Genes

Published: August 19, 2025

Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.

Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.

Journal: Stem cell research

Published: January 18, 2025

Immunoregulatory properties of cell free DNA.

Immunoregulatory properties of cell free DNA.

Journal: Cellular and molecular life sciences : CMLS

Published: October 11, 2024

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Journal: Genes

Published: July 01, 2024

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.

Journal: Frontiers in neurology

Published: December 22, 2023

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Journal: Stem cell research

Published: November 09, 2023

A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

Journal: American journal of medical genetics. Part A

Published: October 03, 2023

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Journal: Genes

Published: February 22, 2023

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Journal: Genes

Published: December 16, 2022

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.

Journal: American journal of medical genetics. Part A

Published: November 08, 2022

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.

Journal: Stem cell research

Published: November 04, 2022

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Last Updated: 09/26/2026