Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rosa Riveiro-Álvarez"'
Autor:
Tamara Carrizosa-Molina, Natalia Casillas-Díaz, Iris Pérez-Nadador, Claudia Vales-Villamarín, Miguel Ángel López-Martínez, Rosa Riveiro-Álvarez, Larry Wilhelm, Rita Cervera-Juanes, Carmen Garcés, Alejandro Lomniczi, Leandro Soriano-Guillén
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background In 1990, David Barker proposed that prenatal nutrition is directly linked to adult cardiovascular disease. Since then, the relationship between adult cardiovascular risk, metabolic syndrome and birth weight has been widely documen
Externí odkaz:
https://doaj.org/article/064832d6e85c4a79bd8740221a102d45
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:
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; Volume 23; Issue 15; Pages: 8431
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::4910486134fd1fb0e0874cf0568eb4dc
Autor:
Nelmar Valentina, Ortiz-Cabrera, Rosa, Riveiro-Álvarez, Miguel Ángel, López-Martínez, Pilar, Pérez-Segura, Isabel, Aragón-Gómez, María José, Trujillo-Tiebas, Leandro, Soriano-Guillén
Publikováno v:
Hormone research in paediatrics. 87(2)
Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62221bff3d23903d8bba56b132dbe7f2
https://pubmed.ncbi.nlm.nih.gov/27931036
https://pubmed.ncbi.nlm.nih.gov/27931036
Autor:
Almudena, Ávila-Fernández, Diego, Cantalapiedra, Elena, Aller, Elena, Vallespín, Jana, Aguirre-Lambán, Fiona, Blanco-Kelly, M, Corton, Rosa, Riveiro-Álvarez, Rando, Allikmets, María José, Trujillo-Tiebas, José M, Millán, Frans P M, Cremers, Carmen, Ayuso
Publikováno v:
Molecular Vision
Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. Methods 272 un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a39445160c0ea4103bc35e56a5493dfc
https://pubmed.ncbi.nlm.nih.gov/21151602
https://pubmed.ncbi.nlm.nih.gov/21151602
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
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 1-2 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/cd761e7eee4c4333b07288b6fe26ab5c
Autor:
Marta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D Tatu, Carmen Ayuso, Carlo Rivolta
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0153121 (2016)
Externí odkaz:
https://doaj.org/article/af91a08aa8d14580a9cf5555ee80b943