Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Aránzazu Díaz de Bustamante"'
Autor:
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J. Ramos, Juan Pié
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow
Externí odkaz:
https://doaj.org/article/9d4e6302de974b37b68d6ed677076a23
Autor:
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 955 (2023)
In this article, we identified a novel epileptogenic variant (G307R) of the gene SLC6A1, which encodes the GABA transporter GAT-1. Our main goal was to investigate the pathogenic mechanisms of this variant, located near the neurotransmitter permeatio
Externí odkaz:
https://doaj.org/article/0fa48065597b4f24a049889d580fd2e3
Autor:
Jorge García-Ezquiaga, María Llanos Carrasco-Marina, Aránzazu Díaz de Bustamante, María Teresa Darnaude-Ortiz
Publikováno v:
Neurología Argentina. 14:251-255
Autor:
Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González-Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda- Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos AC Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Rocío Eirós, María Carmen Fariñas, María J Fernandez-Nestosa, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Manuela Gago-Dominguez, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Anna González-Neira, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney PC Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mellina Pinsach-Abuin, Guillermo Pita, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz-Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez, Luis Miguel Real, SCOURGE Cohort Group, Encarna Guillen-Navarro, Carmen Ayuso, Esteban Parra, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo
Publikováno v:
eLife, Vol 13 (2024)
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific
Externí odkaz:
https://doaj.org/article/011994bb968f4b9ab2fc855d5fdf6178
Autor:
Teresa, Pàmpols Ros, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Ignacio, Blanco Guillermo
Publikováno v:
Revista espanola de salud publica. 96
Genome sequencing is a very attractive technology as it is also the idea of sequencing children at birth, with the aim to establish medical care and preventive actions during their whole life, tailored to the genome of each newborn. Part I of this ar
Autor:
Teresa, Pàmpols Ros, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Ignacio, Blanco Guillermo
Publikováno v:
Revista espanola de salud publica. 96
In 2003 at the ending of the Human Genome Project, it aroused the idea that all newborns could be sequenced and its genome archived in the clinical record, in order to manage risks of diseases and response to medicaments along his whole life. Eightee
Autor:
Yasmin Soares de Lima, Coral Arnau-Collell, Antoni Castells, Aránzazu Díaz de Bustamante, Laia Bonjoch, Sebastià Franch-Expósito, Teresa Ocaña, Daniel Rodríguez-Alcalde, Cristina Herrera-Pariente, Sergi Castellví-Bel, Francesc Balaguer, Leticia Moreira, Luis Bujanda, Lorena Moreno, Marcos Díaz-Gay, Sabela Carballal, Joaquín Cubiella, Miriam Cuatrecasas, Jenifer Muñoz
Publikováno v:
Cancers
Volume 13
Issue 4
Cancers, Vol 13, Iss 929, p 929 (2021)
Volume 13
Issue 4
Cancers, Vol 13, Iss 929, p 929 (2021)
Simple Summary Cancer is the second leading cause of death worldwide. Serrated polyposis syndrome (SPS) is characterized by the presence of serrated lesions in the colon and a higher colorectal cancer (CRC) risk. An important part of risk is due to t
Autor:
Mª Vicenta, Labrador Cañadas, Teresa, Pàmpols Ros, Elena, Dulín Íñiguez, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Concepción, Martín Arribas, Fernando José, García López, Pilar, Nicolás Jiménez
Publikováno v:
Revista espanola de salud publica. 95
Decision making for the development of newborn screening programs is based on not only medical but also social concerns and involves different stakeholders. Part III of the article focuses on their role in the governance of the programs. First of all
Autor:
Aránzazu Díaz de Bustamante, Laia Bonjoch, Joaquín Cubiella, Coral Arnau-Collell, Antoni Castells, Sergi Castellví-Bel, Sebastià Franch-Expósito, Sabela Carballal, Francesc Balaguer, Yasmin Soares de Lima, Marcos Díaz-Gay, Luis Bujanda, Daniel Rodríguez-Alcalde, Teresa Ocaña, Janice M. Fullerton, Miriam Cuatrecasas, Jenifer Muñoz, Claudio Toma, Bronwyn Overs
Publikováno v:
Addi. Archivo Digital para la Docencia y la Investigación
instname
Clinical and Translational Gastroenterology
instname
Clinical and Translational Gastroenterology
SUPPLEMENTARY MATERIAL accompanies this paper athttp://links.lww.com/CTG/A114 OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905f5658d257fc760d74c6a1478052a5
http://hdl.handle.net/10810/39065
http://hdl.handle.net/10810/39065
Autor:
José M. Mostaza, Francisco Arrieta, Agustín Blanco, Luis M. Beltrán, Olga Pernía, Carlos Lahoz, Luis Antonio Álvarez-Sala, Lucía Garzón-Lorenzo, Carmen Rodríguez-Jiménez, Inmaculada Ibáñez de Cáceres, Ángel Asenjo, Aránzazu Díaz de Bustamante, Iluminada García-Polo, Sonia Rodríguez-Nóvoa, Juan de Dios García-Díaz, Carlos Rodriguez-Antolin, Concepción Alonso-Cerezo
Publikováno v:
Human mutation. 40(8)
Familial hypercholesterolemia is an autosomal dominant disease of lipid metabolism caused by defects in the genes LDLR, APOB, and PCSK9. The prevalence of heterozygous familial hypercholesterolemia (HeFH) is estimated between 1/200 and 1/250. Early d