Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
García Rabaneda, Carmen, Perea, Francisco, Bellido Díaz, María Luz, Morales García, Ana I, Martínez Atienza, Margarita, Sousa Silva, Lisbeth, González, Miguel Ángel García, Ruiz-Cabello, Francisco, Esteban de la Rosa, Rafael J
Published in Clinical Kidney Journal (01.07.2021)
Published in Clinical Kidney Journal (01.07.2021)
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Journal Article
Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants
García Rabaneda, Carmen, Bellido Díaz, María Luz, Morales García, Ana Isabel, Poyatos Andújar, Antonio Miguel, Bravo Soto, Juan, Dayaldasani Khialani, Anita, Martínez Atienza, Margarita, Esteban de la Rosa, Rafael Jose
Published in Journal of clinical medicine (01.03.2024)
Published in Journal of clinical medicine (01.03.2024)
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Story of two sisters with kidney disease: Genetics command
Barral-Juez, Mikel, García-Rabaneda, Carmen, Poyatos-Andújar, Antonio Miguel, Martínez-Atienza, Margarita, Morales-García, Ana Isabel, Morales-Santana, Sonia, Bellido-Díaz, María Luz, Bravo-Soto, Juan Antonio, Esteban-de la Rosa, Rafael José
Published in Nefrología (01.01.2022)
Published in Nefrología (01.01.2022)
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New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the Alpujarra region of Granada
García-Rabaneda, Carmen, Martínez-Atienza, Margarita, Morales-García, Ana I., Poyatos-Andújar, Antonio, García-Linares, Susana, Bellido-Díaz, María Luz, Argüelles-Toledo, Irene, García-Valverde, María, Bravo- Soto, Juan A., Esteban-de-la-Rosa, Rafael J.
Published in Nefrología (01.09.2020)
Published in Nefrología (01.09.2020)
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Nueva mutación asociada a poliquistosis renal autosómica dominante con efecto fundador localizada en la Alpujarra de Granada
García-Rabaneda, Carmen, Martínez-Atienza, Margarita, Morales-García, Ana I, Poyatos-Andújar, Antonio, García-Linares, Susana, Bellido-Díaz, María Luz, Argüelles-Toledo, Irene, García-Valverde, María, Bravo-Soto, Juan A, Esteban-de-la-Rosa, Rafael J
Published in Nefrología (01.09.2020)
Published in Nefrología (01.09.2020)
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Panorámica de la poliquistosis renal autosómica dominante en una región del sur de España
Morales García, Ana Isabel, Martínez Atienza, Margarita, García Valverde, María, Fontes Jimenez, Juan, Martínez Morcillo, Antonio, Esteban de la Rosa, M. Angustias, de Diego Fernández, Pablo, García González, Miguel, Fernández Castillo, Rafael, Argüelles Toledo, Irene, Bravo Soto, Juan Antonio, Esteban de la Rosa, Rafael
Published in Nefrología (01.03.2018)
Published in Nefrología (01.03.2018)
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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
Fernández-Marmiesse, Ana, Roca, Iria, Díaz-Flores, Felícitas, Cantarín, Verónica, Pérez-Poyato, Mª Socorro, Fontalba, Ana, Laranjeira, Francisco, Quintans, Sofia, Moldovan, Oana, Felgueroso, Blanca, Rodríguez-Pedreira, Montserrat, Simón, Rogelio, Camacho, Ana, Quijada, Pilar, Ibanez-Mico, Salvador, Domingno, Mª Rosario, Benito, Carmen, Calvo, Rocío, Pérez-Cejas, Antonia, Carrasco, Mª Llanos, Ramos, Feliciano, Couce, Mª Luz, Ruiz-Falcó, Mª Luz, Gutierrez-Solana, Luis, Martínez-Atienza, Margarita
Published in Frontiers in neuroscience (08.11.2019)
Published in Frontiers in neuroscience (08.11.2019)
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Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective
Molina-Zayas, María, Garrido-Navas, Carmen, García-Puche, Jose Luis, Barwell, Julian, Pedrinaci, Susana, Atienza, Margarita Martínez, García-Linares, Susana, de Haro-Muñoz, Tomás, Lorente, Jose Antonio, Serrano, M. Jose, Poyatos-Andújar, Antonio
Published in Molecular genetics and genomics : MGG (01.05.2022)
Published in Molecular genetics and genomics : MGG (01.05.2022)
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New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada
García-Rabaneda, Carmen, Martínez-Atienza, Margarita, Morales-García, Ana I, Poyatos-Andújar, Antonio, García-Linares, Susana, Bellido-Díaz, María Luz, Argüelles-Toledo, Irene, García-Valverde, María, Bravo-Soto, Juan A, Esteban-de-la-Rosa, Rafael J
Published in Nefrología (01.09.2020)
Published in Nefrología (01.09.2020)
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MO022: Digenic inheritance in Alport syndrome
del Mar Del Águila García, María, Poyatos Andújar, Antonio M, Isabel Morales García, Ana, Martínez Atienza, Margarita, García Linares, Susana, Jose Esteban de la Rosa, Rafael
Published in Nephrology, dialysis, transplantation (03.05.2022)
Published in Nephrology, dialysis, transplantation (03.05.2022)
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MO046NGS PANEL PERFORMANCE IN THE DIAGNOSIS OF HEREDITARY RENAL DISEASE IN SOUTHERN SPAIN
Del Águila García, María del Mar, Poyatos Andújar, Antonio M, Morales García, Ana Isabel, Martínez Atienza, Margarita, García Linares, Susana, Esteban de la Rosa, Rafael Jose
Published in Nephrology, dialysis, transplantation (29.05.2021)
Published in Nephrology, dialysis, transplantation (29.05.2021)
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Overview of autosomal dominant polycystic kidney disease in the south of Spain
Morales García, Ana Isabel, Martínez Atienza, Margarita, García Valverde, María, Fontes Jimenez, Juan, Martínez Morcillo, Antonio, Esteban de la Rosa, M Angustias, de Diego Fernández, Pablo, García González, Miguel, Fernández Castillo, Rafael, Argüelles Toledo, Irene, Bravo Soto, Juan Antonio, Esteban de la Rosa, Rafael
Published in Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia (01.03.2018)
Published in Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia (01.03.2018)
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MO064ASSESSMENT OF KIDNEY SURVIVAL IN PATIENTS AFFECTED BY ADPKD
García Rabaneda, Carmen, Morales García, Ana Isabel, Bellido Díaz, María Luz, Del Águila García, María del Mar, Poyatos Andújar, Antonio M, Martínez Atienza, Margarita, Esteban de la Rosa, Rafael Jose
Published in Nephrology, dialysis, transplantation (29.05.2021)
Published in Nephrology, dialysis, transplantation (29.05.2021)
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Journal Article
Erratum to: Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
García Rabaneda, Carmen, Perea, Francisco, Bellido Díaz, María Luz, Morales García, Ana I, Martínez Atienza, Margarita, Sousa Silva, Lisbeth, González, Miguel Ángel García, Ruiz-Cabello, Francisco, Esteban de la Rosa, Rafael J
Published in Clinical kidney journal (08.11.2021)
Published in Clinical kidney journal (08.11.2021)
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Journal Article
Story of two sisters with kidney disease: genetics command
Barral-Juez, Mikel, García-Rabaneda, Carmen, Poyatos-Andújar, Antonio Miguel, Martínez-Atienza, Margarita, Morales-García, Ana Isabel, Morales-Santana, Sonia, Bellido-Díaz, María Luz, Bravo-Soto, Juan Antonio, Esteban-de la Rosa, Rafael José
Published in Nefrología (19.12.2020)
Published in Nefrología (19.12.2020)
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Journal Article
Historia de dos hermanas con enfermedad renal: la genética manda
Barral-Juez, Mikel, García-Rabaneda, Carmen, Poyatos-Andújar, Antonio Miguel, Martínez-Atienza, Margarita, Morales-García, Ana Isabel, Morales-Santana, Sonia, Bellido-Díaz, María Luz, Bravo-Soto, Juan Antonio, Esteban-de la Rosa, Rafael José
Published in Nefrología (01.01.2022)
Published in Nefrología (01.01.2022)
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Journal Article
Overview of autosomal dominant polycystic kidney disease in the south of Spain
García, Ana Isabel Morales, Atienza, Margarita Martínez, Valverde, María García, Jimenez, Juan Fontes, Morcillo, Antonio Martínez, de la Rosa, M. Angustias Esteban, Fernández, Pablo de Diego, González, Miguel García, Castillo, Rafael Fernández, Toledo, Irene Argüelles, Soto, Juan Antonio Bravo, de la Rosa, Rafael Esteban
Published in Nefrología (01.03.2018)
Published in Nefrología (01.03.2018)
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Journal Article
Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
Rabaneda, Carmen Garcia, Perea, Francisco, Diaz, Maria Luz Bellido, Garcia, Ana I. Morales, Atienza, Margarita Ma, Lisbeth Gonzalez, Silva, SousaMiguel Angel Garcia, Ruiz-Cabello, Francisco, Rosa, Rafael J. Esteban de la
Published in Clinical kidney journal (01.11.2021)
Published in Clinical kidney journal (01.11.2021)
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Journal Article
Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
García Rabaneda, Carmen, Perea, Francisco, Bellido Díaz, María Luz, Morales García, Ana I, Martínez Atienza, Margarita, Sousa Silva, Lisbeth, González, Miguel Ángel García, Ruiz-Cabello, Francisco, Esteban de la Rosa, Rafael J
Published in Clinical kidney journal (01.07.2021)
Published in Clinical kidney journal (01.07.2021)
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