Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Almudena Ávila-Fernandez"'
Autor:
Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila-Fernandez, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo-Valero, Alejandra Damián-Verde, Marta Cortón, Carmen Ayuso, Pablo Minguez
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8431 (2022)
The introduction of NGS in genetic diagnosis has increased the repertoire of variants and genes involved and the amount of genomic information produced. We built an allelic-frequency (AF) database for a heterogeneous cohort of genetic diseases to exp
Externí odkaz:
https://doaj.org/article/a50b74d0c84147d58cb572f9d3b384d3
Autor:
Ana Artero Castro, Kathleen Long, Andrew Bassett, Candela Machuca, Marian León, Almudena Ávila-Fernandez, Marta Cortón, Toni Vidal-Puig, Carmen Ayuso, Dunja Lukovic, Slaven Erceg
Publikováno v:
Stem Cell Research, Vol 34, Iss , Pp - (2019)
The human induced pluripotent stem cell (hiPSC) line RP1-FiPS4F1 generated from the patient with autosomal recessive retinitis pigmentosa (arRP) caused by homozygous Ser331Cysfs*5 mutation in Mer tyrosine kinase receptor (MERTK) was genetically corre
Externí odkaz:
https://doaj.org/article/77eb224cd7874491953401fb390c2b30
Autor:
Ana Artero-Castro, Kathleen Long, Andrew Bassett, Almudena Ávila-Fernandez, Marta Cortón, Antonio Vidal-Puig, Pavla Jendelova, Francisco Javier Rodriguez-Jimenez, Eleonora Clemente, Carmen Ayuso, Slaven Erceg
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2092 (2021)
Hereditary retinal dystrophies (HRD) represent a significant cause of blindness, affecting mostly retinal pigment epithelium (RPE) and photoreceptors (PRs), and currently suffer from a lack of effective treatments. Highly specialized RPE and PR cells
Externí odkaz:
https://doaj.org/article/e451dc4c6e53475f8e2dc5999d6e62de
Autor:
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)
PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogen
Externí odkaz:
https://doaj.org/article/33858ca3fd7140b0816bd0db4296ac07
Autor:
María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Jordi Corominas, Christian Gilissen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Javier Ruiz-Ederra, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavi
Externí odkaz:
https://doaj.org/article/bd91c1c27e364dfc8c96109395d9fdc5
Autor:
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
Abstract Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutation
Externí odkaz:
https://doaj.org/article/2381f94658ef4843b1e48b9411294e18
Autor:
Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, Cristina Rodilla, Berta Almoguera, Marta Cortón, Carmen Ayuso, Pablo Mínguez
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorit
Externí odkaz:
https://doaj.org/article/ae4b39ea517a4dbcb32d87c55ae5d62a
Autor:
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Abstract Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridizat
Externí odkaz:
https://doaj.org/article/60825b0a88124fa993f8c183177a345c
Autor:
Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
Abstract Inherited retinal dystrophies (IRD) are a highly heterogeneous group of rare diseases with a molecular diagnostic rate of >50%. Reclassification of variants of uncertain significance (VUS) poses a challenge for IRD diagnosis. We collected 66
Externí odkaz:
https://doaj.org/article/720741e99c944b1c8ee4d0d7b5c84e84
Autor:
Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landsca
Externí odkaz:
https://doaj.org/article/b5897e1349824a999f7e2ef34ee79648