Irene Dominguez-Vazquez

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Journal: Cellular and molecular life sciences : CMLS

Published: October 08, 2025

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.

Journal: Communications medicine

Published: March 22, 2024

Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.

Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.

Journal: Molecular therapy. Nucleic acids

Published: December 28, 2023

Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina.

Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina.

Journal: Nucleic acids research

Published: September 15, 2023

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: September 13, 2023

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

Journal: Cells

Published: September 29, 2022

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: May 24, 2022

Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.

Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: February 25, 2022

Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

Journal: Stem cell research

Published: January 31, 2022

Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

Journal: Stem cell research

Published: January 31, 2022

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

Journal: Stem cell research

Published: December 29, 2021

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.

Journal: Archivos de bronconeumologia

Published: August 29, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026