Ainhoa Alonso-Pascual

Barcelona, CT 08950, Spain

Last Updated: 09/26/2026

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Found 12 publications

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Journal: Diagnostics (Basel, Switzerland)

Published: October 25, 2024

Multi-omics in MECP2 duplication syndrome patients and carriers.

Multi-omics in MECP2 duplication syndrome patients and carriers.

Journal: The European journal of neuroscience

Published: January 16, 2024

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Journal: Human genomics

Published: January 18, 2023

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

Journal: Molecular therapy. Nucleic acids

Published: November 05, 2021

MECP2-Related Disorders in Males.

MECP2-Related Disorders in Males.

Journal: International journal of molecular sciences

Published: July 30, 2021

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

Journal: International journal of molecular sciences

Published: July 30, 2021

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Journal: Biomedicines

Published: December 22, 2020

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Journal: Clinical genetics

Published: October 24, 2019

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Journal: International journal of molecular sciences

Published: July 03, 2019

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Journal: Scientific reports

Published: March 07, 2019

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: December 19, 2018

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Journal: Molecular genetics & genomic medicine

Published: August 24, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026