Publications by authors named "Maria Arnedo"

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Expansion of influenza A(H1N1)pdm09 NA:S247N viruses with reduced susceptibility to oseltamivir, Catalonia, Spain, and in Europe, July to October 2025.
Narcís Saubi, Cristina Andrés, Ignasi Prats-Méndez, Alejandra González-Sánchez, Alysa Davtyan, Maria Arnedo

Euro Surveill· December 2025

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AI-Based Facial Phenotyping Supports a Shared Molecular Axis in -, -, and -Related Syndromes.
Julia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos, Laura Acero, Laura Trujillano, María Arnedo

Int J Mol Sci· August 2025

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Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.
María Arnedo, David Ros-Pardo, Beatriz Puisac, Cristina Lucia-Campos, Marta Gil-Salvador

Int J Mol Sci· August 2025

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Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona, María Arnedo

Sci Rep· July 2025

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Insights into the Genetics Underlying the Resistance to Root-Knot Nematode Reproduction in the Common Bean Ouro Negro.
Ana M Pesqueira, Ana M González, Teresa Barragán-Lozano, María S Arnedo, Rafael Lozano

Plants (Basel)· April 2025

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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, María Arnedo

Front Genet· November 2024

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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo

J Clin Res Pediatr Endocrinol· May 2024

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Cornelia de Lange Spectrum.
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia Del Rincón

An Pediatr (Engl Ed)· May 2024

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Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, Ana Latorre-Pellicer, María Arnedo

Cureus· April 2024

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Heart Disease Characterization and Myocardial Strain Analysis in Patients with Neurodevelopmental Disorder.
Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, María Arnedo

J Clin Med· June 2023

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Selection of Novel Reference Genes by RNA-Seq and Their Evaluation for Normalising Real-Time qPCR Expression Data of Anthocyanin-Related Genes in Lettuce and Wild Relatives.
Inés Medina-Lozano, María Soledad Arnedo, Jérôme Grimplet, Aurora Díaz

Int J Mol Sci· February 2023

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Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, Gonzalo González García, Ángela Ascaso, María Arnedo

Int J Cardiovasc Imaging· November 2022

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Case report: A novel case of parental mosaicism in gene causes inherited Cornelia de Lange syndrome.
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude

Front Genet· September 2022

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A Novel Intragenic Duplication in the Gene Underlying a Case of Cornelia de Lange Syndrome.
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo

Genes (Basel)· August 2022

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Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador

Int J Mol Sci· August 2022

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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
Ana Latorre-Pellicer, Ángela Ascaso, Cristina Lucia-Campos, Marta Gil-Salvador, María Arnedo

Mol Genet Genomic Med· November 2021

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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, María Arnedo

Sci Rep· July 2021

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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo

Int J Mol Sci· February 2020

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More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Rebeca Antoñanzas-Peréz

Int J Mol Sci· December 2019

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SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs.
Ryu-Suke Nozawa, Lora Boteva, Dinesh C Soares, Catherine Naughton, Alison R Dun, Maria Arnedo

Cell· June 2017

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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Mónica Ramos, Sebastián Menao, María Arnedo, Beatriz Puisac, María Concepción Gil-Rodríguez

Eur J Med Genet· August 2013

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Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Beatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, María Concepción Gil-Rodríguez, Celia Pérez-Cerdá

Mol Genet Metab· April 2013

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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
María Arnedo, Sebastián Menao, Beatriz Puisac, María E Teresa-Rodrigo, María C Gil-Rodríguez

J Lipid Res· October 2012

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Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo

BMC Med Genet· June 2012

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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Beatriz Puisac, Mónica Ramos, María Arnedo, Sebastián Menao, María Concepción Gil-Rodríguez

Mol Biol Rep· April 2012

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