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Cruz, Raquel [Author]; Diz-de Almeida, Silvia [Author]; Heredia, Miguel López de [Author]; Quintela, Inés [Author]; Ceballos, Francisco C. [Author]; Pita, Guillermo [Author]; Lorenzo-Salazar, José M. [Author]; González-Montelongo, Rafaela [Author]; Gago-Domínguez, Manuela [Author]; Porras, Marta Sevilla [Author]; Castaño, Jair Antonio Tenorio [Author]; Nevado, Julian [Author]; Aguado, Jose Maria [Author]; Aguilar, Carlos [Author]; Aguilera-Albesa, Sergio [Author]; Almadana, Virginia [Author]; Almoguera, Berta [Author]; Alvarez, Nuria [Author]; Andreu-Bernabeu, Álvaro [Author]; Arana-Arri, Eunate [Author]; Arango, Celso [Author]; Arranz, María J. [Author]; Artiga, Maria-Jesus [Author]; Baptista-Rosas, Raúl C. [Author]; [...]

Novel genes and sex differences in COVID-19 severity

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2022

Published in: Human molecular genetics ; 31(2022), 22, Seite 3789-3806
de Rojas, Teresa; Aparicio, Cristina; de Lucas, Carmen; Martinez, Beatriz; Gil-Fournier, Belén; Ramiro-León, Soraya

Cystinuria in a patient with 19q12q13.1 deletion

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Springer Science and Business Media LLC, 2016

Published in: CEN Case Reports
Pinel González, Ana Belén; Hernández Laín, Aurelio; Gil Fournier, Belén; Ramiro León, Soraya

Rabdomiólisis aguda en una paciente portadora en heterocigosis de una mutación no descrita en el gen PNPLA2

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Viguera Editores SLU, 2015

Published in: Revista de Neurología
de Miguel Serrano, Cristina María; Montero Escribano, Paloma; Pinel González, Ana Belén; Gil Fournier, Belén; Ramiro León, Soraya

Nueva mutación en el gen del alfa-sarcoglicano en una familia española con distrofia muscular

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Viguera Editores SLU, 2013

Published in: Revista de Neurología
Pilar Antón-Martín; Cristina Aparicio López; Soraya Ramiro-León; Sonia Santillán Garzón; Fernando Santos-Simarro; Belén Gil-Fournier

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

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2012

Published in: Clinical Medicine Insights: Pediatrics
Antón-Martín, Pilar; López, Cristina Aparicio; Ramiro-León, Soraya; Garzón, Sonia Santillán; Santos-Simarro, Fernando; Gil-Fournier, Belén

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

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SAGE Publications, 2012

Published in: Clinical Medicine Insights: Pediatrics
Giacaman, Rodrigo A.; Fernández, Constanza E.; Muñoz-Sandoval, Cecilia; León, Soraya; García-Manríquez, Natalia; Echeverría, Constanza; Valdés, Sebastián; Castro, Ramiro J.; Gambetta-Tessini, Karla

Understanding dental caries as a non-communicable and behavioral disease: Management implications

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Frontiers Media SA, 2022

Published in: Frontiers in Oral Health
González, AnaPinel; Avila, GuillermoMartin; Abad, Araceli; Fournier, BelénGil; León, SorayaRamiro; Corral, JaimeAntonio Medranda; Fernández, CarlosPiquero

Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype

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Medknow, 2021

Published in: Neurology India
Aparicio López, Cristina; Anton-Martin, Pilar; Gil-Fournier, Belén; Ramiro-León, Soraya; Pérez-Nanclares, Gustavo; Pérez de Nanclares, Guiomar; Martínez Menéndez, Beatriz; Castaño, Luis

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine

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Springer Science and Business Media LLC, 2012

Published in: European Journal of Pediatrics
Barbosa-Gouveia, Sofia; Vázquez-Mosquera, Maria Eugenia; González-Vioque, Emiliano; Hermida-Ameijeiras, Álvaro; Sánchez-Pintos, Paula; de Castro, Maria José; León, Soraya Ramiro; Gil-Fournier, Belén; Domínguez-González, Cristina; Camacho Salas, Ana; Negrão, Luis; Fineza, Isabel; Laranjeira, Francisco; Couce, Maria Luz

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

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MDPI AG, 2022

Published in: Journal of Clinical Medicine
Alvarez-Mora, Maria Isabel; Blanco-Palmero, Victor Antonio; Quesada-Espinosa, Juan Francisco; Arteche-Lopez, Ana Rosa; Llamas-Velasco, Sara; Palma Milla, Carmen; Lezana Rosales, Jose Miguel; Gomez-Manjon, Irene; Hernandez-Lain, Aurelio; Jimenez Almonacid, Justino; Gil-Fournier, Belén; Ramiro-León, Soraya; González-Sánchez, Marta; Herrero-San Martín, Alejandro Octavio; Pérez-Martínez, David Andrés; Gómez-Tortosa, Estrella; Carro, Eva; Bartolomé, Fernando; Gomez-Rodriguez, Maria Jose; Sanchez-Calvin, María Teresa; Villarejo-Galende, Alberto; Moreno-Garcia, Marta

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

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MDPI AG, 2022

Published in: International Journal of Molecular Sciences
Arteche-López, Ana; Gómez Rodríguez, Maria José; Sánchez Calvin, Maria Teresa; Quesada-Espinosa, Juan Francisco; Lezana Rosales, Jose Miguel; Palma Milla, Carmen; Gómez-Manjón, Irene; Hidalgo Mayoral, Irene; Pérez de la Fuente, Rubén; Díaz de Bustamante, Arancha; Darnaude, María Teresa; Gil-Fournier, Belén; Ramiro León, Soraya; Ramos Gómez, Patricia; Sierra Tomillo, Olalla; Juárez Rufián, Alexandra; Arranz Cano, Maria Isabel; Villares Alonso, Rebeca; Morales-Pérez, Pablo; Segura-Tudela, Alejandro; Camacho, Ana; Nuñez, Noemí; Simón, Rogelio; Moreno-García, Marta;

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

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MDPI AG, 2021

Published in: Genes
Salazar-Mendiguchía, Joel; Ochoa, Juan Pablo; Palomino-Doza, Julian; Domínguez, Fernando; Díez-López, Carles; Akhtar, Mohammed; Ramiro-León, Soraya; Clemente, María M; Pérez-Cejas, Antonia; Robledo, María; Gómez-Díaz, Iria; Peña-Peña, María Luisa; Climent, Vicente; Salmerón-Martínez, Francisco; Hernández, Celestino; García-Granja, Pablo E; Mogollón, M Victoria; Cárdenas-Reyes, Ivonne; Cicerchia, Marcos; García-Giustiniani, Diego; Lamounier Jr., Arsonval; Gil-Fournier, Belén; Díaz-Flores, Felícitas; Salguero, Rafael; [...]

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

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BMJ, 2020

Published in: Heart
Giacaman, Rodrigo A.; Aranguiz, Vicente; Botelho, Juliana; Bustos, Ivonne P.; Cabello, Rodrigo; Candiales, Yuliana; Carrizo, Ana María; Carvajal, Claudia; Castro, Ramiro; Castro, René; Díaz, Jaime; Díaz-Yokens, Marco; Díaz-Dosque, Mario; Diaz-Garrido, Natalia; Durán, Gerardo; Faleiros, Simone; Flores, Mario; Fonseca, Juan; Fontana, Margherita; Gajardo, Manuel; Gómez, Marianela; Gonzalez-Cabezas, Carlos; González, Sergio; Irribarra, Roberto; [...]

Creación de un Currículo de Competencias en Cariología para Estudiantes de Pregrado de Odontología en Chile

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SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2018

Published in: Revista clínica de periodoncia, implantología y rehabilitación oral
Giacaman, Rodrigo A.; Aranguiz, Vicente; Botelho, Juliana; Bustos, Ivonne P.; Cabello, Rodrigo; Candiales, Yuliana; Carrizo, Ana María; Carvajal, Claudia; Castro, Ramiro; Castro, René; Díaz, Jaime; Díaz-Yokens, Marco; Díaz-Dosque, Mario; Diaz-Garrido, Natalia; Durán, Gerardo; Faleiros, Simone; Flores, Mario; Fonseca, Juan; Fontana, Margherita; Gajardo, Manuel; Gómez, Marianela; Gonzalez-Cabezas, Carlos; González, Sergio; Irribarra, Roberto; [...]

Fe de errores a «Creación de un Currículo de Competencias en Cariología para Estudiantes de Pregrado de Odontología en Chile»

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SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2018

Published in: Revista clínica de periodoncia, implantología y rehabilitación oral
Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; García-Miñaúr, Sixto; Ángeles Mori, Maria; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-del Pozo, Jaime; Bernado Fonz, Raquel; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; [...]

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

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BMJ, 2023

Published in: Journal of Medical Genetics
de Sequera, Patricia; Pérez-García, Rafael; Vega, Almudena; Martínez-Vaquera, Shaira; Acosta, Jesús Guillermo; Pérez Del Valle, Katia; Fernández-Lucas, Milagros; García-Rubiales, María Antonia; García-Herrera, Antonio Luis; Coll, Elisabeth; Mérida, Evangelina; Martínez-Miguel, Patricia; Castaño, Itziar; Gil-Casares, Beatriz; Garro, Julia; Maduell, Francisco; de Sequera, Patricia; Jaldo, María Teresa; Puerta, Marta; Medina, Laura; Vega, Almudena; Abad, Soraya; Macías, Nicolás; García, Ana; [...]

Trial design of the MOTheR HDx study: a multicenter, open-label, prospective, randomized study to explore the morbidity and mortality in patients dialyzed with the Theranova HDx in comparison with online hemodiafiltration

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Oxford University Press (OUP), 2023

Published in: Clinical Kidney Journal
Quiroga, Borja; Soler, María José; Ortiz, Alberto; Martínez Vaquera, Shaira; Jarava Mantecón, Carlos Jesús; Useche, Gustavo; Sánchez Márquez, María Gabriela; Carnerero, Manuel; Jaldo Rodríguez, María Teresa; Muñoz Ramos, Patricia; Ruiz San Millán, Juan Carlos; Toapanta, Nestor; Gracia-Iguacel, Carolina; Aguilar Cervera, María Cinta; Balibrea Lara, Noelia; Leyva, Alba; Rojas, José; Gansevoort, Ron T; de Sequera, Patricia; León, José Luis Pizarro; García, Manuel Antonio Martínez; Jiménez, Benaldina García; Pérez, Virginia Olinda Gómez; Moya, Juan de Dios Ramiro; [...]

Safety and immediate humoral response of COVID-19 vaccines in chronic kidney disease patients: the SENCOVAC study

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Oxford University Press (OUP), 2022

Published in: Nephrology Dialysis Transplantation
Cruz, Raquel; Diz-de Almeida, Silvia; López de Heredia, Miguel; Quintela, Inés; Ceballos, Francisco C; Pita, Guillermo; Lorenzo-Salazar, José M; González-Montelongo, Rafaela; Gago-Domínguez, Manuela; Sevilla Porras, Marta; Tenorio Castaño, Jair Antonio; Nevado, Julian; Aguado, Jose María; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Álvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, María J; Artiga, Maria-Jesus; Baptista-Rosas, Raúl C; [...]

Novel genes and sex differences in COVID-19 severity

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Oxford University Press (OUP), 2022

Published in: Human Molecular Genetics
Quiroga, Borja; Soler, María José; Ortiz, Alberto; Bernat, Amparo; Muñoz Díaz, Ana Beatriz; Jarava Mantecón, Carlos Jesús; Gómez Pérez, Virginia Olinda; Calderón González, Carmen; Cervienka, Michal; Mazuecos, Auxiliadora; Cazorla, Juan Manuel; Carnerero Di Riso, Manuel; Martínez, Shaira; Ortega Diaz, Mayra; Lucena Valverde, Rafael; Sánchez Márquez, María Gabriela; Lancho Novillo, Carolina; González Parra, Emilio; Gracia-Iguacel, Carolina; Rodrigo De Tomas, María Teresa; Aguilar Cervera, María Cinta; Giorgi, Martín; Muñoz Ramos, Patricia; Macías Carmona, Nicolás; [...]

Loss of humoral response 3 months after SARS-CoV-2 vaccination in the CKD spectrum: the multicentric SENCOVAC study

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Oxford University Press (OUP), 2022

Published in: Nephrology Dialysis Transplantation

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