Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alejandra Damian"'
Autor:
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1562 (2023)
PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic v
Externí odkaz:
https://doaj.org/article/6b35d5b8f177485b8d9dccf67ba6f1e0
Autor:
Marta Mascaraque, Pablo Delgado-Wicke, Alejandra Damian, Silvia Rocío Lucena, Elisa Carrasco, Ángeles Juarranz
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1229 (2019)
Photodynamic therapy (PDT) constitutes a cancer treatment modality based on the administration of a photosensitizer, which accumulates in tumor cells. The subsequent irradiation of the tumoral area triggers the formation of reactive oxygen species re
Externí odkaz:
https://doaj.org/article/0d69141616e8435ca359afb15704fb05
Autor:
Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina
Publikováno v:
Clinical Genetics. 103:236-241
The biallelic pathogenic repeat (AAGGG)
Akademický článek
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Autor:
Maria Tarilonte, Marta Corton, M.A. Moreno-Pelayo, M. Villamar, Alejandra Tamayo, Fiona Blanco-Kelly, Carmen Ayuso, Alejandra Damian
Publikováno v:
Archivos de la Sociedad Española de Oftalmología. 96:4-14
Resumen La aniridia es una enfermedad panocular caracterizada por hipoplasia iridiana, habitualmente acompanada de otras manifestaciones oculares, con gran variabilidad y solapamiento clinico con otras anomalias del segmento anterior y posterior. Est
Autor:
Emiliano Gonzalez-Vioque, Carlos Rodríguez-Martín, Pablo Tutor, Julián Lara-Herguedas, Javier Alonso, Beatriz Baladron, Eva Bermejo-Sánchez, Alejandra Damian, Irene Gonzalo, Isabel Cuesta, Enriqueta Roman, C. Jimenez, Virginia Aquino, Sara Monzón, Manuel Posada, Susana Mellor, Estrella Lopez-Martin, Purificacion Ros, Maria Jose Cabrejas, Gema Gomez-Mariano, Rosario Cazorla, Gema Iglesias, Miguel Juliá, Beatriz Martinez-Delgado
Publikováno v:
American Journal of Medical Genetics Part A. 185:877-883
Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intell
Akademický článek
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Autor:
Marta Corton, Carmen Ayuso, Fiona Blanco-Kelly, Alejandra Tamayo, M.A. Moreno-Pelayo, Maria Tarilonte, M. Villamar, Alejandra Damian
Publikováno v:
Archivos de la Sociedad Espanola de Oftalmologia. 96
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on
Autor:
Marta Rodriguez de Alba, María Carmen Cotarelo-Pérez, Raluca Oancea Ionescu, Lorena de la Fuente, Marta Corton, Cristina Villaverde, Gonzalo Núñez-Moreno, Raquel Romero, Olga Pérez Rodríguez, María José Trujillo-Tiebas, Alejandra Tamayo, Carmen Ayuso, Pablo Minguez, Alejandra Damian
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12713, p 12713 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12713
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12713
Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by c
Autor:
Alejandra Damian, Angeles Juarranz, Pablo Delgado-Wicke, Silvia Rocío Lucena, Elisa Carrasco, Marta Mascaraque
Publikováno v:
International Journal of Molecular Sciences
Volume 20
Issue 5
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1229 (2019)
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Volume 20
Issue 5
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1229 (2019)
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Licensee MDPI, Basel, Switzerland. Photodynamic therapy (PDT) constitutes a cancer treatment modality based on the administration of a photosensitizer, which accumulates in tumor cells. The subsequent irradiation of the tumoral area triggers the form