Cystinuria in a patient with 19q12q13.1 deletion
de Rojas, Teresa, Aparicio, Cristina, de Lucas, Carmen, Martinez, Beatriz, Gil-Fournier, Belén, Ramiro-León, Soraya
Published in CEN case reports (01.05.2016)
Published in CEN case reports (01.05.2016)
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Novel genes and sex differences in COVID-19 severity
Cruz, Raquel, Almeida, Silvia Diz-de, Heredia, Miguel López, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Porras, Marta Sevilla, Castaño, Jair Antonio Tenorio, 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, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Campo-Pérez, Victor, Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Luchessi, Andre D, Eirós, Rocío, Sanabria, Gladys Mercedes Estigarribia, Fariñas, María Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Quirós, Fernan Gonzalez Bernaldo, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Borja, Anabel Liger, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Ángel, Mazzeu, Juliana A, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, León, Soraya Ramiro, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz-Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos
Published in Human molecular genetics (16.06.2022)
Published in Human molecular genetics (16.06.2022)
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Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family
Fraile, Alfonso, Cebrián, Jorge, Thuissard-Vasallo, Israel, Pérez-Martín, Sara, Casado, Raquel, Gil-Fournier, Belén, Alonso-Martín, Joaquín, Tamargo, Juan, Caballero, Ricardo, Delpón, Eva, Cosío, Francisco G.
Published in Canadian journal of cardiology (01.07.2024)
Published in Canadian journal of cardiology (01.07.2024)
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
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, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo
Published in Heart (British Cardiac Society) (01.09.2020)
Published in Heart (British Cardiac Society) (01.09.2020)
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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
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, Alvarez-Mora, Maria Isabel
Published in Genes (12.04.2021)
Published in Genes (12.04.2021)
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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
Avila, Guillermo, González, Ana, Abad, Araceli, Fournier, Belén, León, Soraya, Corral, Jaime, Fernández, Carlos
Published in Neurology India (01.11.2021)
Published in Neurology India (01.11.2021)
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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
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
Published in International journal of molecular sciences (11.04.2022)
Published in International journal of molecular sciences (11.04.2022)
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Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis
Camacho, Ana, Martínez, Beatriz, Alvarez, Sara, Gil-Fournier, Belén, Ramiro, Soraya, Hernández-Laín, Aurelio, Núñez, Noemí, Simón, Rogelio
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
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
Published in Journal of clinical medicine (12.05.2022)
Published in Journal of clinical medicine (12.05.2022)
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Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine
Aparicio Lopez, Cristina, Anton-Martin, Pilar, Gil-Fournier, Belen, Ramiro-Leon, Soraya, Perez-Nanclares, Gustavo, Perez de Nanclares, Guiomar, Martinez Menendez, Beatriz, Castano, Luis
Published in European journal of pediatrics (2012)
Published in European journal of pediatrics (2012)
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (15.01.2021)
Published in Scientific reports (15.01.2021)
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Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
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, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1
Pavón de Paz, Isabel, Gil Fournier, Belén, Navea Aguilera, Cristina, Gómez Rodríguez, Sara, Ramiro León, María Soraya
Published in Endocrinologia y nutricion (01.08.2016)
Published in Endocrinologia y nutricion (01.08.2016)
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HCN4 AND GATA5 PREVIOUSLY UNDESCRIBED VARIANTS IN A LARGE KINDRED WITH FAMILIAL ATRIAL FIBRILLATION
Sanz, Alfonso Fraile, Alvarez, Raquel Casado, Caballero, Ricardo, Delpon, Eva, Egido, Jesus Perea, Duran, Blanca Alcon, Gil-Fournier, Belen, Ramiro, Soraya, Thuissard, Israel, Tamargo, Juan, Lefort, Marisa, Martin, Joaquin Alonso, Cosio, Francisco
Published in Journal of the American College of Cardiology (10.03.2018)
Published in Journal of the American College of Cardiology (10.03.2018)
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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernandez, G., Xiol, C., Pascual-Alonso, A., Pineda, M., Maria del Mar, O'Callaghan, Garcia-Cazorla, Àngels, del Carmen Serrano Munuera, Maria, García, Silvia Cuso, Troncoso, Monica, Fariña, Guillermo, García Peñas, Juan José, Fournier, Belen Gil, León, Soraya Ramiro, Guitart, Miriam, Baena, Neus, de Nanclares, Guiomar Perez, Oci, Intzane Ocio, Gutiérrez-Delicado, Eva, Abarrategui, Belén, Barroso, Eva, Santos-Simarro, Fernando, Lapunzina, Pablo, García, Francisco J., Acedo, Juan M., García, Asunción, Martinez, Miguel A., Martínez-Bermejo, Antonio, Armstrong, J.
Published in European journal of paediatric neurology (01.07.2019)
Published in European journal of paediatric neurology (01.07.2019)
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (10.05.2021)
Published in Scientific reports (10.05.2021)
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Journal Article
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León, Sonia Santillán Garzón, Fernando Santos-Simarro, Belén Gil-Fournier
Published in Clinical Medicine Insights: Pediatrics (01.01.2012)
Published in Clinical Medicine Insights: Pediatrics (01.01.2012)
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