Concepedia
Statistics
Publications
5
Citations
105
H-Index
Active since
2019
Affiliations
Hospital Sant Joan de Déu Barcelona(Current)
Instituto de Salud Carlos III
Centre for Biomedical Network Research on Rare Diseases
Universitat de Barcelona
Institut d'Investigació Biomédica de Bellvitge
Ainhoa Pascual‐Alonso is an author at Hospital Sant Joan de Déu Barcelona specializing in genetics, molecular genetics, and medicine.
Top concepts
GeneticsMedicineMolecular GeneticsNeurologyPathologyNeurosciencePathogenesisNeurogeneticsPublic HealthNeuropathology
Publications per year
2019–2023
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · European Journal of Paediatric Neurology · 2019 · 31 citations · Full text
Mendelian Disorder, Disease Mechanism, Genetic Disorder +13
Molecular characterization of Spanish patients with <i>MECP2</i> duplication syndrome
Ainhoa Pascual‐Alonso, Laura Campello Blasco, Silvia M. Vidal et al. · Clinical Genetics · 2020 · 26 citations
Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +15
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome
Edilene Siqueira Soares, Aida Obiols-Guardia, Olga C. Jorge-Torres et al. · Molecular Therapy — Nucleic Acids · 2021 · 12 citations · Full text
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Ainhoa Pascual‐Alonso, Clara Xiol, Dmitrii Smirnov et al. · Human Genomics · 2023 · 12 citations · Full text
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