Search Results - "Barreda‐Sánchez, María"

The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study by Castelbón Fernández, Francisco Javier, Barreda Sánchez, María, Arranz Canales, Elena, Hernández Contreras, María Encarnación, Solares, Isabel, Morales Conejo, Montserrat, Muñoz Cuadrado, Álvaro, Casado Gómez, Araceli, Yébenes Cortés, María, Guillén Navarro, Encarna

“…Acute hepatic porphyria (AHP) comprises a group of rare genetic diseases characterized by neurovisceral crises that are manifested by abdominal pain and…”
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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 by López-Rodríguez, Rosario, Del Pozo-Valero, Marta, Corton, Marta, Minguez, Pablo, Ruiz-Hornillos, Javier, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Villaverde, Cristina, Núñez-Moreno, Gonzalo, Romero, Raquel, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen

“…Rare variants affecting host defense against pathogens could be involved in COVID-19 severity and may help explain fatal outcomes in young and middle-aged…”
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Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients by Buendía-Martínez, Juan, Barreda-Sánchez, María, Rodríguez-Peña, Lidya, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Pérez-Tomás, María Elena, Gil-Ferrer, Remedios, Avilés-Plaza, Francisco, Glover-López, Guillermo, Carazo-Díaz, Carmen, Guillén-Navarro, Encarna

“…Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and…”
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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population by Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna

“…Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated…”
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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice by Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna

“…Intellectual disability (ID) has a prevalence of 1-3% and aproximately 30-50% of ID cases have a genetic cause. Development of next-generation sequencing has…”
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Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study by López‐Rodríguez, Rosario, Ruiz‐Hornillos, Javier, Cortón, Marta, Almoguera, Berta, Minguez, Pablo, Pérez‐Tomás, María Elena, Barreda‐Sánchez, María, Mancebo, Esther, Ondo, Lorena, Martínez‐Ramas, Andrea, Fernández‐Caballero, Lidia, Taracido‐Fernández, Juan Carlos, Herrero‐González, Antonio, Mahillo, Ignacio, Paz‐Artal, Estela, Guillén‐Navarro, Encarna, Ayuso, Carmen

“…Background Ample evidence indicates a sex‐related difference in severity of COVID‐19, with less favorable outcomes observed in men. Genetic factors have been…”
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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor by Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peña, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria Del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna

“…Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem…”
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Novel risk loci for COVID-19 hospitalization among admixed American populations by Diz-de Almeida, Silvia, Cruz, Raquel, Luchessi, Andre D, Lorenzo-Salazar, José M, de Heredia, Miguel López, Quintela, Inés, González-Montelongo, Rafaela, Nogueira Silbiger, Vivian, Porras, Marta Sevilla, 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, 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, Del Campo-Pérez, Victor, de Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Eirós, Rocío, Fariñas, María Carmen, Fernandez-Nestosa, María J, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gago-Dominguez, Manuela, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Bernaldo de Quirós, Fernan Gonzalez, González-Neira, Anna, 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, Angel, Mazzeu, Juliana F, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, 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, Mellina, Pita, Guillermo, 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

“…The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However,…”
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The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study by Castelbón Fernández, Francisco Javier, Barreda Sánchez, María, Arranz Canales, Elena, Hernández Contreras, María Encarnación, Solares, Isabel, Morales Conejo, Montserrat, Muñoz Cuadrado, Álvaro, Casado Gómez, Araceli, Yébenes Cortés, María, Guillén Navarro, Encarna

“…Acute hepatic porphyria (AHP) comprises a group of rare genetic diseases characterized by neurovisceral crises that are manifested by abdominal pain and…”
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High penetrance of acute intermittent in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor by Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peéa, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna

“…Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem…”
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Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years by Del Pozo-Valero, Marta, Corton, Marta, López-Rodríguez, Rosario, Mahillo-Fernández, Ignacio, Ruiz-Hornillos, Javier, Minguez, Pablo, Villaverde, Cristina, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen

“…Clonal hematopoiesis, especially that of indeterminate potential (CHIP), has been associated with age-related diseases, such as those contributing to a more…”
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HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases by Martínez-Romero, María Carmen, Hernández-Contreras, María Encarnación, Bafalliu-Vidal, Juan Antonio, Barreda-Sánchez, María, Martínez-Menchón, Teresa, Cabello-Chaves, Virginia, Guillén-Navarro, Encarna

“…HELIX syndrome (Hypohidrosis-Electrolyte disturbances-hypoLacrimia-Ichthyosis-Xerostomia) (MIM#617671) (ORPHA:528105), described in 2017, is due to an abnormal…”
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