Works matching AU Latorre-Pellicer, Ana

Results: 20

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-024-07314-y

By:

Cabrera-Alarcon, José Luis;
Cruz, Raquel;
Rosa-Moreno, Marina;
Latorre-Pellicer, Ana;
de Almeida, Silvia Diz;
Abellán, Javier;
Acosta-Isaac, René;
Aguado, Jose María;
Aguilar, Carlos;
Aguilera-Albesa, Sergio;
Sabbagh, Abdolah Ahmadi;
Alba, Jorge;
Albu, Sergiu;
Alcalá-Gallardo, Karla A. M.;
Alcoba-Florez, Julia;
Batres, Sergio Alcolea;
Algarin-Lara, Holmes Rafael;
Almadana, Virginia;
Medeiros, Kelliane A.;
Almeida, Julia

Publication type:

Article

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4052, doi. 10.3390/jcm12124052

By:

Latorre-Pellicer, Ana;
Trujillano, Laura;
del Rincón, Julia;
Peña-Marco, Mónica;
Gil-Salvador, Marta;
Lucia-Campos, Cristina;
Arnedo, María;
Puisac, Beatriz;
Ramos, Feliciano J.;
Ayerza-Casas, Ariadna;
Pié, Juan

Publication type:

Article

Impact of CYP2C19 Genotype and Drug Interactions on Voriconazole Plasma Concentrations: A Spain Pharmacogenetic‐Pharmacokinetic Prospective Multicenter Study.

Published in:

Pharmacotherapy, 2020, v. 40, n. 1, p. 17, doi. 10.1002/phar.2351

By:

Blanco‐Dorado, Sara;
Maroñas, Olalla;
Latorre‐Pellicer, Ana;
Rodríguez Jato, María Teresa;
López‐Vizcaíno, Ana;
Gómez Márquez, Aurea;
Bardán García, Belén;
Belles Medall, Dolores;
Barbeito Castiñeiras, Gema;
Pérez del Molino Bernal, María Luisa;
Campos‐Toimil, Manuel;
Otero Espinar, Francisco;
Blanco Hortas, Andrés;
Durán Piñeiro, Goretti;
Zarra Ferro, Irene;
Carracedo, Ángel;
Lamas, María Jesús;
Fernández‐Ferreiro, Anxo

Publication type:

Article

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24808-z

By:

Garcia, Patricia;
Fernandez-Hernandez, Rita;
Cuadrado, Ana;
Coca, Ignacio;
Gomez, Antonio;
Maqueda, Maria;
Latorre-Pellicer, Ana;
Puisac, Beatriz;
Ramos, Feliciano J.;
Sandoval, Juan;
Esteller, Manel;
Mosquera, Jose Luis;
Rodriguez, Jairo;
Pié, J.;
Losada, Ana;
Queralt, Ethel

Publication type:

Article

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Published in:

Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413

By:

Lucia-Campos, Cristina;
Valenzuela, Irene;
Latorre-Pellicer, Ana;
Ros-Pardo, David;
Gil-Salvador, Marta;
Arnedo, María;
Puisac, Beatriz;
Castells, Neus;
Plaja, Alberto;
Tenes, Anna;
Cuscó, Ivon;
Trujillano, Laura;
Ramos, Feliciano J.;
Tizzano, Eduardo F.;
Gómez-Puertas, Paulino;
Pié, Juan

Publication type:

Article

Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9649, doi. 10.3390/ijms23179649

By:

Arnedo, María;
Ascaso, Ángela;
Latorre-Pellicer, Ana;
Lucia-Campos, Cristina;
Gil-Salvador, Marta;
Ayerza-Casas, Ariadna;
Pablo, María Jesús;
Gómez-Puertas, Paulino;
Ramos, Feliciano J.;
Bueno-Lozano, Gloria;
Pié, Juan;
Puisac, Beatriz

Publication type:

Article

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 1042, doi. 10.3390/ijms21031042

By:

Latorre-Pellicer, Ana;
Ascaso, Ángela;
Trujillano, Laura;
Gil-Salvador, Marta;
Arnedo, Maria;
Lucia-Campos, Cristina;
Antoñanzas-Pérez, Rebeca;
Marcos-Alcalde, Iñigo;
Parenti, Ilaria;
Bueno-Lozano, Gloria;
Musio, Antonio;
Puisac, Beatriz;
Kaiser, Frank J.;
Ramos, Feliciano J.;
Gómez-Puertas, Paulino;
Pié, Juan

Publication type:

Article

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6124, doi. 10.3390/ijms20246124

By:

Arnedo, María;
Latorre-Pellicer, Ana;
Lucia-Campos, Cristina;
Gil-Salvador, Marta;
Antoñanzas-Peréz, Rebeca;
Gómez-Puertas, Paulino;
Bueno-Lozano, Gloria;
Puisac, Beatriz;
Pié, Juan

Publication type:

Article

An Observational Study of the Efficacy and Safety of Voriconazole in a Real-Life Clinical Setting.

Published in:

Journal of Chemotherapy (Taylor & Francis Ltd), 2019, v. 31, n. 1, p. 49, doi. 10.1080/1120009X.2018.1524085

By:

Blanco-Dorado, Sara;
Cea-Arestin, Cristina;
González Carballo, Alba;
Latorre-Pellicer, Ana;
Maroñas Amigo, Olalla;
Barbeito Castiñeiras, Gema;
Pérez del Molino Bernal, María Luisa;
Campos-Toimil, Manuel;
Fernández-Ferreiro, Anxo;
Lamas, María J.

Publication type:

Article

Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome.

Published in:

Applied Sciences (2076-3417), 2021, v. 11, n. 2, p. 710, doi. 10.3390/app11020710

By:

Matute-Llorente, Ángel;
Ascaso, Ángela;
Latorre-Pellicer, Ana;
Puisac, Beatriz;
Trujillano, Laura;
Llorente, Elena;
Puente-Lanzarote, Juan José;
Ayerza-Casas, Ariadna;
Arnedo, María;
Moreno, Luis A.;
Ramos, Feliciano;
Pié, Juan;
Casajus, José A.;
Bueno-Lozano, Gloria

Publication type:

Article

A multicentre prospective study evaluating the impact of proton‐pump inhibitors omeprazole and pantoprazole on voriconazole plasma concentrations.

Published in:

British Journal of Clinical Pharmacology, 2020, v. 86, n. 8, p. 1661, doi. 10.1111/bcp.14267

By:

Blanco Dorado, Sara;
Maroñas Amigo, Olalla;
Latorre‐Pellicer, Ana;
Rodríguez Jato, María Teresa;
López‐Vizcaíno, Ana;
Gómez Márquez, Aurea;
Bardán García, Belén;
Belles Medall, Dolores;
Barbeito Castiñeiras, Gema;
Pérez del Molino Bernal, María Luisa;
Campos‐Toimil, Manuel;
Otero Espinar, Francisco;
Blanco Hortas, Andrés;
Zarra Ferro, Irene;
Carracedo, Ángel;
Lamas, María Jesús;
Fernández‐Ferreiro, Anxo

Publication type:

Article

Voriconazole hepatotoxicity as a result of steroid withdrawal in a patient with allergic bronchopulmonary aspergillosis.

Published in:

2019

By:

Blanco‐Dorado, Sara;
Bandín‐Vilar, Enrique José;
Fernández‐Ferreiro, Anxo;
Lamas, María Jesús;
Marques Afonso, Ana Teresa;
Novo‐Veleiro, Ignacio;
Ferrón Vidán, Fernando;
Latorre‐Pellicer, Ana;
Maroñas Amigo, Olalla

Publication type:

Letter to the Editor

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.993064

By:

Gil-Salvador, Marta;
Latorre-Pellicer, Ana;
Lucia-Campos, Cristina;
Arnedo, María;
Darnaude, María Teresa;
Díaz de Bustamante, Aránzazu;
Villares, Rebeca;
Palm Milla, Carmen;
Puisac, Beatriz;
Musio, Antonio;
Ramos, Feliciano J.;
Pié, Juan

Publication type:

Article

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

Published in:

2022

By:

Trujillano, Laura;
Ayerza-Casas, Ariadna;
Puisac, Beatriz;
García, Gonzalo González;
Ascaso, Ángela;
Latorre-Pellicer, Ana;
Arnedo, María;
Lucia-Campos, Cristina;
Gil-Salvador, Marta;
Kaiser, Frank J.;
Ramos, Feliciano J.;
Pié, Juan;
Bueno-Lozano, Gloria

Publication type:

journal article

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1472543

By:

Lucia-Campos, Cristina;
Parenti, Ilaria;
Latorre-Pellicer, Ana;
Gil-Salvador, Marta;
Bestetti, Ilaria;
Finelli, Palma;
Larizza, Lidia;
Arnedo, María;
Ayerza-Casas, Ariadna;
Del Rincón, Julia;
Trujillano, Laura;
Morte, Beatriz;
Pérez-Jurado, Luis A.;
Lapunzina, Pablo;
Leitão, Elsa;
Beygo, Jasmin;
Lich, Christina;
Kilpert, Fabian;
Kaya, Sabine;
Depienne, Christel

Publication type:

Article

Priming of dendritic cells by DNA-containing extracellular vesicles from activated T cells through antigen-driven contacts.

Published in:

Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-05077-9

By:

Torralba, Daniel;
Baixauli, Francesc;
Villarroya-Beltri, Carolina;
Fernández-Delgado, Irene;
Latorre-Pellicer, Ana;
Acín-Pérez, Rebeca;
Martín-Cófreces, Noa B.;
Jaso-Tamame, Ángel Luis;
Iborra, Salvador;
Jorge, Inmaculada;
González-Aseguinolaza, Gloria;
Garaude, Johan;
Vicente-Manzanares, Miguel;
Enríquez, José Antonio;
Mittelbrunn, María;
Sánchez-Madrid, Francisco

Publication type:

Article

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2022.2022-4-14

By:

Ascaso, Ángela;
Latorre-Pellicer, Ana;
Puisac, Beatriz;
Trujillano, Laura;
Arnedo, María;
Parenti, Ilaria;
Llorente, Elena;
José Puente-Lanzarote, Juan;
Matute-Llorente, Ángel;
Ayerza-Casas, Ariadna;
Kaiser, Frank J.;
Ramos, Feliciano J.;
Pié Juste, Juan;
Bueno-Lozano, Gloria

Publication type:

Article

Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.

Published in:

Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 117, doi. 10.2147/PGPM.S274741

By:

Fernandes, Marianne Rodrigues;
Rodrigues, Juliana Carla Gomes;
Maroñas, Olalla;
Latorre-Pellicer, Ana;
Cruz, Raquel;
Guerreiro, João Farias;
Burbano, Rommel Mario Rodriguez;
Assumpção, Paulo Pimentel de;
Ribeiro-dos-Santos, Andrea;
Santos, Sidney Emanuel Batista dos;
Carracedo, Angel;
Santos, Ney Pereira Carneiro dos

Publication type:

Article

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z

By:

Latorre-Pellicer, Ana;
Gil-Salvador, Marta;
Parenti, Ilaria;
Lucia-Campos, Cristina;
Trujillano, Laura;
Marcos-Alcalde, Iñigo;
Arnedo, María;
Ascaso, Ángela;
Ayerza-Casas, Ariadna;
Antoñanzas-Pérez, Rebeca;
Gervasini, Cristina;
Piccione, Maria;
Mariani, Milena;
Weber, Axel;
Kanber, Deniz;
Kuechler, Alma;
Munteanu, Martin;
Khuller, Katharina;
Bueno-Lozano, Gloria;
Puisac, Beatriz

Publication type:

Article

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1826

By:

Latorre‐Pellicer, Ana;
Ascaso, Ángela;
Lucia‐Campos, Cristina;
Gil‐Salvador, Marta;
Arnedo, María;
Antoñanzas, Rebeca;
Ayerza‐Casas, Ariadna;
Marcos‐Alcalde, Iñigo;
Gómez‐Puertas, Paulino;
Ramos, Feliciano J.;
Pié, Juan;
Puisac, Beatriz

Publication type:

Article