Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Susana García‐Linares"'
Autor:
Ana Isabel Morales-García, Carmen García-Rabaneda, Susana García-Linares, María Dolores Prados-Garrido, Rafael José Esteban-de la Rosa
Publikováno v:
Nefrología (English Edition), Vol 42, Iss 6, Pp 731-733 (2022)
Externí odkaz:
https://doaj.org/article/1fd93e8e919e4ea8a09e5d1d167f1422
Autor:
Ana Isabel Morales-García, Carmen García-Rabaneda, Susana García-Linares, María Dolores Prados-Garrido, Rafael José Esteban-de la Rosa
Publikováno v:
Nefrología, Vol 42, Iss 6, Pp 731-733 (2022)
Externí odkaz:
https://doaj.org/article/df419985bf2a40e3bb518e32f471c888
Autor:
Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 790-795 (2021)
Abstract Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic
Externí odkaz:
https://doaj.org/article/173e37166dd4410fa147addb5eb33fbf
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:
María del Mar Del Águila García, Antonio M Poyatos Andújar, Ana Isabel Morales García, Margarita Martínez Atienza, Susana García Linares, Rafael Jose Esteban de la Rosa
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS The approach to Alport syndrome is a difficult task due to the phenotypic variability of its symptomatology, incomplete penetrance and its different forms of inheritance [1]. It presents a high degree of underdiagnosis, both becau
Autor:
Francisa Sonia Molina García, Pilar Carretero, Dolores Fresneda, Susana García-Linares, Laura Gort, Olga Ocon, Antonio Poyatos-Andujar
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 790-795 (2021)
Clinical Case Reports
Clinical Case Reports
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Autor:
Susana García Linares, Raquel González Villén, José María Gómez Vida, Irene Sofía Machado Casas
Publikováno v:
Anales de Pediatría, Vol 94, Iss 4, Pp 265-267 (2021)
Autor:
Rafael J. Esteban-de-la-Rosa, Antonio Poyatos-Andujar, Margarita Martínez-Atienza, María García-Valverde, Ana Isabel Morales-García, Irene Argüelles-Toledo, Carmen García-Rabaneda, María Luz Bellido-Díaz, Susana García-Linares, J.A. Bravo-Soto
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
Autor:
Rafael José Esteban de la Rosa, Antonio M Poyatos Andújar, Susana García Linares, Margarita Martínez Atienza, Ana Isabel Morales García, María del Mar Del Águila García
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Hereditary renal disease (HRD) is still underdiagnosed: although we know aspects related to autosomal dominant polycystic kidney disease (ADPKD), we know little about the incidence and prevalence of other entities such as Alport s