Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry
Cruz-Utrilla, Alejandro, Gallego-Zazo, Natalia, Tenorio-Castaño, Jair Antonio, Guillén, Inmaculada, Torrent-Vernetta, Alba, Moya-Bonora, Amparo, Labrandero, Carlos, Rodríguez-Monte, María Elvira Garrido-Lestache, Rodríguez-Ogando, Alejandro, Rey, María del Mar Rodríguez Vázquez Del, Espín, Juana, Plata-Izquierdo, Beatriz, Álvarez-Fuente, María, Moreno-Galdó, Antonio, Escribano-Subias, Pilar, Marín, María Jesús Del Cerro
Published in International journal of molecular sciences (09.09.2022)
Published in International journal of molecular sciences (09.09.2022)
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Journal Article
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
Sandoval-Talamantes, Ana Karen, Tenorio-Castaño, Jair Antonio, Santos-Simarro, Fernando, Adán, Carmen, Fernández-Elvira, María, García-Fernández, Laura, Muñoz, Yolanda, Lapunzina, Pablo, Nevado, Julián
Published in Genes (01.11.2023)
Published in Genes (01.11.2023)
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Journal Article
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension
Vera-Zambrano, Alba, Lago-Docampo, Mauro, Gallego, Natalia, Franco-Gonzalez, Juan Felipe, Morales-Cano, Daniel, Cruz-Utrilla, Alejandro, Villegas-Esguevillas, Marta, Fernández-Malavé, Edgar, Escribano-Subías, Pilar, Tenorio-Castaño, Jair Antonio, Perez-Vizcaino, Francisco, Valverde, Diana, González, Teresa, Cogolludo, Angel
Published in American journal of respiratory cell and molecular biology (01.08.2023)
Published in American journal of respiratory cell and molecular biology (01.08.2023)
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Journal Article
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension
Castaño, Jair Antonio Tenorio, Hernández-Gonzalez, Ignacio, Gallego, Natalia, Pérez-Olivares, Carmen, Ochoa Parra, Nuria, Arias, Pedro, Granda, Elena, Acebo, Gonzalo Gómez, Lago-Docampo, Mauro, Palomino-Doza, Julian, López Meseguer, Manuel, del Cerro, María Jesús, PAH Consortium, Spanish, Valverde, Diana, Lapunzina, Pablo, Escribano-Subías, Pilar
Published in Genes (01.10.2020)
Published in Genes (01.10.2020)
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Journal Article
Digenic Inheritance in a Case of Pulmonary Arterial Hypertension Associated with Two Incidental Septal Defects and Multiple Thoracic Collaterals
Cruz-Utrilla, Alejandro, Escribano Subias, María Pilar, Tenorio Castaño, Jair Antonio, del Cerro Marín, María Jesús
Published in Archivos de bronconeumología (English ed.) (01.03.2023)
Published in Archivos de bronconeumología (English ed.) (01.03.2023)
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Journal Article
Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension
Cruz-Utrilla, Alejandro, Gallego-Zazo, Natalia, Pérez-Olivares, Carmen, Hernández-González, Ignacio, Bedate, Pedro, Martínez Meñaca, Amaya, López Meseguer, Manuel, Lapunzina, Pablo, Pérez Núñez, Marta, Ochoa Parra, Nuria, Valverde, Diana, Tenorio-Castaño, Jair Antonio, Escribano-Subias, Pilar
Published in Revista española de cardiología (English ed.) (01.06.2023)
Published in Revista española de cardiología (English ed.) (01.06.2023)
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Journal Article
Utilidad de la genética en la reclasificación y la mejoría en la estratificación pronóstica en la hipertensión arterial pulmonar
Cruz-Utrilla, Alejandro, Gallego-Zazo, Natalia, Pérez-Olivares, Carmen, Hernández-González, Ignacio, Bedate, Pedro, Martínez Meñaca, Amaya, López Meseguer, Manuel, Lapunzina, Pablo, Pérez Núñez, Marta, Ochoa Parra, Nuria, Valverde, Diana, Tenorio-Castaño, Jair Antonio, Escribano-Subias, Pilar
Published in Revista española de cardiologia (01.06.2023)
Published in Revista española de cardiologia (01.06.2023)
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Journal Article
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival
Navas Tejedor, Paula, Palomino Doza, Julián, Tenorio Castaño, Jair Antonio, Enguita Valls, Ana Belén, Rodríguez Reguero, José Julián, Martínez Meñaca, Amaya, Hernández González, Ignacio, Bueno Zamora, Héctor, Lapunzina Badía, Pablo Daniel, Escribano Subías, Pilar
Published in Revista española de cardiología (English ed.) (01.02.2018)
Published in Revista española de cardiología (English ed.) (01.02.2018)
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Journal Article
Expresividad variable de una mutación fundadora en el gen EIF2AK4 en pacientes con enfermedad venooclusiva pulmonar hereditaria. Impacto en la supervivencia
Navas Tejedor, Paula, Palomino Doza, Julián, Tenorio Castaño, Jair Antonio, Enguita Valls, Ana Belén, Rodríguez Reguero, José Julián, Martínez Meñaca, Amaya, Hernández González, Ignacio, Bueno Zamora, Héctor, Lapunzina Badía, Pablo Daniel, Escribano Subías, Pilar
Published in Revista española de cardiologia (01.02.2018)
Published in Revista española de cardiologia (01.02.2018)
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Journal Article
Digenic Inheritance in a Case of Pulmonary Arterial Hypertension Associated with Two Incidental Septal Defects and Multiple Thoracic Collaterals
Cruz-Utrilla, Alejandro, Escribano Subias, María Pilar, Tenorio Castaño, Jair Antonio, Del Cerro Marín, María Jesús
Published in Archivos de bronconeumologia (01.03.2023)
Published in Archivos de bronconeumologia (01.03.2023)
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