Adrián González-Quintana

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 8

Top Topics

Hypertrophic Cardiomyopathy

Genome Wide Identification

Top Venues

International journal of molecular sciences

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez, Ángela Hernández-Martín, Jon Sánchez-Munárriz, Jose Miguel Lezana Rosales, Juan Francisco Quesada-Espinosa, Miguel Angel Martin, Ana Arteche-López
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma. Genes 14 (7) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel Angel Martin
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report. Genes 11 (8) (2020)
Ines Garcia-Consuegra, Alberto Blázquez-Encinar, Juan Carlos Rubio, Joaquín Arenas, Alfonsina Ballester-Lopez, Adrián González-Quintana, Antoni L Andreu, Tomàs Pinós, Jaume Coll-Cantí, Alejandro Lucia, Gisela Nogales-Gadea, Miguel Angel Martin
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)