Giulia Savio

Brescia, Italy

Last Updated: 09/26/2026

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Found 8 publications

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Journal: Stem cell research

Published: July 19, 2019

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Journal: Stem cell research

Published: July 17, 2019

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Journal: Stem cell research

Published: July 16, 2019

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Journal: Stem cell research

Published: December 21, 2018

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.

Journal: Stem cell research

Published: June 05, 2017

Cultured human amniocytes express hTERT, which is distributed between nucleus and cytoplasm and is secreted in extracellular vesicles.

Cultured human amniocytes express hTERT, which is distributed between nucleus and cytoplasm and is secreted in extracellular vesicles.

Journal: Biochemical and biophysical research communications

Published: November 18, 2016

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Journal: BMC medical genetics

Published: October 08, 2014

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

Journal: Molecular cytogenetics

Published: January 27, 2014

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Last Updated: 09/26/2026