Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia
Rodríguez‐Jiménez, Carmen, Pernía, Olga, Mostaza, Jose, Rodríguez‐Antolín, Carlos, Dios García‐Díaz, Juan, Alonso‐Cerezo, Concepción, García‐Polo, Iluminada, Blanco, Agustín, Lahoz, Carlos, Arrieta, Francisco, Beltrán, Luis, Díaz de Bustamante, Aránzazu, Garzón‐Lorenzo, Lucía, Álvarez‐Sala, Luis Antonio, Asenjo, Ángel, Ibáñez de Cáceres, Inmaculada, Rodríguez‐Nóvoa, Sonia
Published in Human mutation (01.08.2019)
Published in Human mutation (01.08.2019)
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Journal Article
Fabry Nephropathy: An Evidence-Based Narrative Review
del Pino, María, Andrés, Amado, Bernabéu, Ana Ávila, de Juan-Rivera, Joaquín, Fernández, Elvira, de Dios García Díaz, Juan, Hernández, Domingo, Luño, José, Fernández, Isabel Martínez, Paniagua, José, Posada de la Paz, Manuel, Rodríguez-Pérez, José Carlos, Santamaría, Rafael, Torra, Roser, Ambros, Joan Torras, Vidau, Pedro, Torregrosa, Josep-Vicent
Published in Kidney & blood pressure research (01.01.2018)
Published in Kidney & blood pressure research (01.01.2018)
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Journal Article
Primary constitutional MLH1 epimutations: a focal epigenetic event
Dámaso, Estela, Castillejo, Adela, Arias, María del Mar, Canet-Hermida, Julia, Navarro, Matilde, del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel
Published in British journal of cancer (16.10.2018)
Published in British journal of cancer (16.10.2018)
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Journal Article
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals
de Dios García-Díaz, Juan, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Riera-Mestre, Antoni
Published in Orphanet journal of rare diseases (14.01.2022)
Published in Orphanet journal of rare diseases (14.01.2022)
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Journal Article
Proprotein Convertase Subtilisin/Kexin Type 9 Antibody and Statin-Associated Autoimmune Myopathy
de Dios García-Díaz, Juan, Corral-Bueno, Iraida M, Mesa-Latorre, José María, Lozano-Durán, Cristina, Hernández-Ahijado, Concepción
Published in Annals of internal medicine (02.07.2019)
Published in Annals of internal medicine (02.07.2019)
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Journal Article
Changes in lipid profile after biliopancreatic diversion
García-Díaz, Juan de Dios, Lozano, Oscar, Ramos, Juan Carlos, Gaspar, Maria Jesús, Keller, Jerry, Duce, Antonio Martín
Published in Obesity surgery (01.10.2003)
Published in Obesity surgery (01.10.2003)
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Journal Article
Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge
del Rocío Samillán-Sosa, Kelly, Sención-Martínez, Gloria, Lopes-Martín, Vanessa, Martínez-González, Miguel Angel, Solé, Manel, Arostegui, Jose Luis, Mesa, Jose, García-Díaz, Juan de Dios, Rodríguez-Puyol, Diego, Martínez-Miguel, Patricia
Published in Nefrología (01.05.2015)
Published in Nefrología (01.05.2015)
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Journal Article
Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1
García-Díaz, Juan de Dios, Balsa-Vázquez, Javier, Rodríguez-Villa, Ana, Férriz, Esther
Published in Pediatric dermatology (03.09.2024)
Published in Pediatric dermatology (03.09.2024)
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Journal Article
Amiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico
Samillán-Sosa, Kelly del Rocío, Sención-Martínez, Gloria, Lopes-Martín, Vanessa, Martínez-González, Miguel Angel, Solé, Manel, Arostegui, Jose Luis, Mesa, Jose, García-Díaz, Juan de Dios, Rodríguez-Puyol, Diego, Martínez-Miguel, Patricia
Published in Nefrología (01.05.2015)
Published in Nefrología (01.05.2015)
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Journal Article
Werner syndrome as a crossroads between lipodystrophy, escleroderma-like changes and torpid ulcers in lower limbs
García Díaz, Juan de Dios, Coronado Fernández, Sandra, Jiménez, Sara, Rubio, José Antonio, Bohórquez Heras, Cristina
Published in Endocrinología, diabetes y nutrición. (01.05.2023)
Published in Endocrinología, diabetes y nutrición. (01.05.2023)
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Journal Article
Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation
Karabul, Nesrin, Bradley, Aoife, de Dios García Díaz, Juan, Figuera, Luis, Gal, Andreas, Giugliani, Roberto, Goker-Alpan, Ozlem, Lavery, Christine, Mehta, Atul, Thompson, Lorraine, Sakai, Norio, Warnock, David G.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
Long-term treatment persistence and maintained reduction of LDL-cholesterol levels with evolocumab over 30 months: Results from the Spanish cohort of the European prospective HEYMANS study
Blanco Echevarría, Agustín, García Díaz, Juan De Dios, Caixas, Assumpta, Plana Gil, Núria, Rico Corral, Miguel Ángel, Bridges, Ian, Dhalwani, Nafeesa, Gatell Menchen, Sònia, Ray, Kausik K.
Published in Clínica e investigación en arteriosclerosis (Internet, English ed.) (01.11.2023)
Published in Clínica e investigación en arteriosclerosis (Internet, English ed.) (01.11.2023)
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Journal Article
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3
Briet, Claire, Pereda, Arrate, Le Stunff, Catherine, Motte, Emmanuelle, de Dios Garcia-Diaz, Juan, de Nanclares, Guiomar Perez, Dumaz, Nicolas, Silve, Caroline
Published in Human molecular genetics (15.10.2017)
Published in Human molecular genetics (15.10.2017)
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Journal Article
Long-term treatment persistence and maintained reduction of LDL-cholesterol levels with evolocumab over 30 months: Results from the Spanish cohort of the European prospective HEYMANS study
Blanco Echevarría, Agustín, García Díaz, Juan De Dios, Caixas, Assumpta, Plana Gil, Núria, Rico Corral, Miguel Ángel, Bridges, Ian, Dhalwani, Nafeesa, Gatell Menchen, Sònia, Ray, Kausik K
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (01.11.2023)
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (01.11.2023)
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Journal Article
Polyarteritis nodosa after interferon treatment for chronic hepatitis C
de Dios García-Díaz, Juan, García-Sánchez, Marta, Busteros, José Ignacio, Arcos, Pilar
Published in Journal of clinical virology (01.02.2005)
Published in Journal of clinical virology (01.02.2005)
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Journal Article
Therapeutic strategies. Evolution and current status of the European Guidelines on Cardiovascular disease prevention
Guijarro, Carlos, García-Díaz, Juan de Dios
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (01.04.2013)
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (01.04.2013)
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Journal Article
Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge
Samillán-Sosa, Kelly Del Rocío, Sención-Martínez, Gloria, Lopes-Martín, Vanessa, Martínez-González, Miguel Angel, Solé, Manel, Arostegui, Jose Luis, Mesa, Jose, García-Díaz, Juan de Dios, Rodríguez-Puyol, Diego, Martínez-Miguel, Patricia
Published in Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia (2015)
Published in Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia (2015)
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Journal Article