Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Alejandra Tamayo"'
Autor:
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
Abstract Background Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (
Externí odkaz:
https://doaj.org/article/d7b6bf8c425a4fb8968b32b2ebc4f0c9
Autor:
Marina Lagos, Catalina Pineda, Laura Saavedra, Vladimir Cortez, Diana Ortiz, Alejandra Tamayo, Juliana Velasquez, José G Franco
Publikováno v:
Psicosomática y Psiquiatría, Iss 18 (2021)
Diversas guías sobre prevención y control de la tuberculosis indican que en el tratamiento de la enfermedad infecciosa es fundamental tener en cuenta la salud mental de los pacientes. La relación de los síntomas y trastornos mentales con la tuber
Externí odkaz:
https://doaj.org/article/a4356204a9044f5da84208312b0de4cd
Publikováno v:
Human Genetics. 142:495-506
DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their association with disease traits should be confirmed using functional assays from patient cell lines or alternative models to detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2bac1b9cc82909ce9927a2b451d2d7d6
https://doi.org/10.1007/s00439-023-02539-z
https://doi.org/10.1007/s00439-023-02539-z
Autor:
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Publikováno v:
Ophthalmic Genetics. 43:809-816
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ecd84033d347a6aa82f798fff34786b
https://doi.org/10.1080/13816810.2022.2144905
https://doi.org/10.1080/13816810.2022.2144905
Autor:
Lina Escobar-Gómez, Carlos Cardeno-Castro, Alejandra Tamayo-Gómez, Diana Ortiz-Carmona, Juliana Velásquez-Suárez, Vladimir Cortés-López, Carlos Federico Molina-Castaño, Lina Páramo-Duque
Publikováno v:
Burns. 48:995-1003
Introduction A burn injury is a very painful experience, with subsequent emotional problems, which have been gaining relevance to the extent that survival from burns has improved. Among the alterations of the mental sphere in this population is Acute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bfce75c5ffcbca8e70b136af40b720
https://doi.org/10.1016/j.burns.2021.09.024
https://doi.org/10.1016/j.burns.2021.09.024
Autor:
Patricia Paredes Lascano, Alejandro Bravo Paredes, Alejandra Tamayo Viera, Maritza Toapanta Amán, Andrés Toscano Ponce
Publikováno v:
Pediatría (Asunción). 49:14-20
Introducción: La apendicitis aguda es una enfermedad inflamatoria infecciosa del apéndice cecal, constituye la causa más común de emergencia quirúrgica en pediatría. Las manifestaciones clínicas varían significativamente según la edad y sexo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8640cc680b178f21c6385cb0955eab7
https://doi.org/10.31698/ped.49012022003
https://doi.org/10.31698/ped.49012022003
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91fb13a2676481746b1cf2d770b89582
https://doi.org/10.1016/j.oftal.2021.02.002
https://doi.org/10.1016/j.oftal.2021.02.002
Autor:
Alejandra Tamayo, Patricia Rivas, Jorge Valmaña, Inés Alía, José Joaquín Paricio, José Daniel Escobedo
Publikováno v:
44 Congreso de la Sociedad Española de Endoscopia Digestiva Abstracts Publication.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e340fb505d387ad3f4dc9b0f1ae299d2
https://doi.org/10.48158/seed2022.p195
https://doi.org/10.48158/seed2022.p195
Autor:
Guilermo Fernandez-Sanz, Patrick Calvas, Marta Corton, Carmen Ayuso, Patricia Ramos, Raquel Romero, Maria Tarilonte, Alejandra Tamayo, Fiona Blanco-Kelly, Blanca Gener, Saoud Tahsin Swafiri, Jennifer Moya, Cristina Villaverde
Publikováno v:
Journal of Medical Genetics. 59:428-437
BackgroundThe paired-domain transcription factor paired box gene 6 (PAX6) causes a wide spectrum of ocular developmental anomalies, including congenital aniridia, Peters anomaly and microphthalmia. Here, we aimed to functionally assess the involvemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feb11b792783273668def8eeca63eaf3
https://doi.org/10.1136/jmedgenet-2020-106932
https://doi.org/10.1136/jmedgenet-2020-106932
DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their association with disease traits should be confirmed using functional assays from patient cell lines or other alternative models to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4d6820d284be01bc7000f175298ac5e
https://doi.org/10.1101/2022.03.01.482488
https://doi.org/10.1101/2022.03.01.482488
