Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Belén Gil-Fournier"'
Autor:
Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González-Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda- Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos AC Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Rocío Eirós, María Carmen Fariñas, María J Fernandez-Nestosa, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Manuela Gago-Dominguez, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Anna González-Neira, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney PC Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mellina Pinsach-Abuin, Guillermo Pita, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz-Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez, Luis Miguel Real, SCOURGE Cohort Group, Encarna Guillen-Navarro, Carmen Ayuso, Esteban Parra, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo
Publikováno v:
eLife, Vol 13 (2024)
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific
Externí odkaz:
https://doaj.org/article/011994bb968f4b9ab2fc855d5fdf6178
Autor:
Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4230 (2022)
In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant demen
Externí odkaz:
https://doaj.org/article/fc0b0cbd907349918ab1ecb68b3326b7
Autor:
Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León, Belén Gil-Fournier, Cristina Domínguez-González, Ana Camacho Salas, Luis Negrão, Isabel Fineza, Francisco Laranjeira, Maria Luz Couce
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 10; Pages: 2750
Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorde
Autor:
Ana María Camacho, Olalla Sierra Tomillo, Belén Gil-Fournier, Rogelio Simón, Alejandro Segura-Tudela, Juan Francisco Quesada-Espinosa, Maria Isabel Arranz Cano, Arancha Díaz de Bustamante, José Miguel Lezana Rosales, Pablo Morales-Pérez, Noemí Núñez, Rubén Pérez de la Fuente, Soraya Ramiro León, María Teresa Darnaude, Maria Isabel Alvarez-Mora, María José Gómez Rodríguez, Rebeca Villares Alonso, Carmen Palma Milla, Patricia Ramos Gómez, M. Moreno-García, Alexandra Juárez Rufián, Ana Arteche-López, Irene Hidalgo Mayoral, Irene Gómez-Manjón, María Teresa Sánchez Calvín
Publikováno v:
Genes, Vol 12, Iss 560, p 560 (2021)
Genes
Volume 12
Issue 4
Genes
Volume 12
Issue 4
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C
Autor:
Soraya Ramiro, Beatriz Martinez, Aurelio Hernández-Laín, Sara Alvarez, Ana María Camacho, Noemí Núñez, Belén Gil-Fournier, Rogelio Simón
Publikováno v:
Journal of neuromuscular diseases. 7(3)
Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a bra
Autor:
Joel, Salazar-Mendiguchía, Juan Pablo, Ochoa, Julian, Palomino-Doza, Fernando, Domínguez, Carles, Díez-López, Mohammed, Akhtar, Soraya, Ramiro-León, María M, Clemente, Antonia, Pérez-Cejas, María, Robledo, Iria, Gómez-Díaz, María Luisa, Peña-Peña, Vicente, Climent, Francisco, Salmerón-Martínez, Celestino, Hernández, Pablo E, García-Granja, M Victoria, Mogollón, Ivonne, Cárdenas-Reyes, Marcos, Cicerchia, Diego, García-Giustiniani, Arsonval, Lamounier, Belén, Gil-Fournier, Felícitas, Díaz-Flores, Rafael, Salguero, Luis, Santomé, Petros, Syrris, Montse, Olivé, Pablo, García-Pavía, Martín, Ortiz-Genga, Perry M, Elliott, Lorenzo, Monserrat, Juan Pablo, Trujillo-Quintero
Publikováno v:
Heart
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role
Autor:
Isabel Pavón de Paz, Belén Gil Fournier, Sara Gómez Rodríguez, Cristina Navea Aguilera, María Soraya Ramiro León
Publikováno v:
Endocrinología y Nutrición. 63:367-369
Autor:
Sara Gómez Rodríguez, Cristina Navea Aguilera, Isabel Pavón de Paz, Belén Gil Fournier, María Soraya Ramiro León
Publikováno v:
Endocrinología y Nutrición (English Edition). 63:367-369
Autor:
Soraya Ramiro-León, Cristina Aparicio, Beatriz Martinez, Carmen de Lucas, Teresa de Rojas, Belén Gil-Fournier
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Cystinuria is a genetic cause of kidney stones with a prevalence of 1 in 7000 births. So far, two genes have been described responsible for this disorder (SLC3A1 and SLC7A9). We report a patient with an SLC7A9 gene mutation located in 19q13.1 on one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c4851b5a6f8f0c46d69c429f3c8716
https://hdl.handle.net/20.500.12530/23913
https://hdl.handle.net/20.500.12530/23913
Autor:
Pilar Antón-Martín, Belén Gil-Fournier, Fernando Santos-Simarro, Cristina Aparicio López, Soraya Ramiro-León, Sonia Santillán Garzón
Publikováno v:
Clinical Medicine Insights. Pediatrics
Clinical Medicine Insights: Pediatrics, Vol 6 (2012)
Clinical Medicine Insights: Pediatrics, Vol 2012, Iss 6, Pp 41-49 (2012)
Clinical Medicine Insights: Pediatrics, Vol 6 (2012)
Clinical Medicine Insights: Pediatrics, Vol 2012, Iss 6, Pp 41-49 (2012)
BackgroundAlport syndrome is a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. It is a genetically heterogeneous disease with different mutations and forms of inheritance that presents