Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ana I Morales García"'
Autor:
Carmen García-Rabaneda, Margarita Martínez-Atienza, Ana I. Morales-García, Antonio Poyatos-Andújar, Susana García-Linares, María Luz Bellido-Díaz, Irene Argüelles-Toledo, María García-Valverde, Juan A. Bravo- Soto, Rafael J. Esteban-de-la-Rosa
Publikováno v:
Nefrología (English Edition), Vol 40, Iss 5, Pp 536-542 (2020)
Objective: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion
Externí odkaz:
https://doaj.org/article/b27fecf593464cec9888517903f61585
Autor:
Carmen García-Rabaneda, Margarita Martínez-Atienza, Ana I Morales-García, Antonio Poyatos-Andújar, Susana García-Linares, María Luz Bellido-Díaz, Irene Argüelles-Toledo, María García-Valverde, Juan A Bravo-Soto, Rafael J Esteban-de-la-Rosa
Publikováno v:
Nefrología, Vol 40, Iss 5, Pp 536-542 (2020)
Resumen: Objetivo: Demostrar que la variante no descrita en el gen PKD1 c.7292T>A, identificada en cuatro familias de la comarca de la Alpujarra de Granada, es la causante de la poliquistosis renal autosómica dominante (PQRAD). Esta variante consist
Externí odkaz:
https://doaj.org/article/06f10555ba334961a960889d4489e137
Autor:
Rafael José Esteban de la Rosa, José Luis Navarro Espigares, Ana I Morales García, Luis Martínez Navarro, Antonio Miguel Poyatos Andújar, María García Valverde, Juan Antonio Bravo Soto
Publikováno v:
Urology & Nephrology Open Access Journal. 11:30-31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13765a3ef032783f82a624a130787990
https://doi.org/10.15406/unoaj.2023.11.00326
https://doi.org/10.15406/unoaj.2023.11.00326
Autor:
Francisco Perea, Margarita Martínez Atienza, Ana I Morales García, Lisbeth Sousa Silva, Miguel Ángel García González, Carmen García Rabaneda, Rafael José Esteban de la Rosa, María Luz Bellido Díaz, Francisco Ruiz-Cabello
Publikováno v:
Clinical Kidney Journal
Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A, from unrelated families. They came from two small counties in Granada, with 61 and 26 autosomal dominant polycystic kidney disease (ADPKD) individuals af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7df6e82ccfb6574cd71e9851ceb406
http://europepmc.org/articles/PMC8243269
http://europepmc.org/articles/PMC8243269