Zobrazeno 1 - 10
of 283
pro vyhledávání: '"Inmaculada Martin"'
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:
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:
Maria Antonia Revidatti, Luis T Gama, Inmaculada Martin Burriel, Oscar Cortés Gardyn, Juan Sebastian Cappello Villada, María Inés Carolino, Francisco Javier Cañón, Catarina Ginja, Philip Sponenberg, Antonio P Vicente, Pilar Zaragoza, Juan Vicente Delgado, Amparo Martínez, BioPig Consortium
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0251879 (2021)
American Criollo pigs are thought to descend mainly from those imported from the Iberian Peninsula starting in the late 15th century. Criollo pigs subsequently expanded throughout the Americas, adapting to very diverse environments, and possibly rece
Externí odkaz:
https://doaj.org/article/ed900f3e38bf4be3bcb8c017c0476871
Autor:
David Sanz-Rubio, Inmaculada Martin-Burriel, Ana Gil, Pablo Cubero, Marta Forner, Abdelnaby Khalyfa, Jose M. Marin
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract Exosomes are nano-vesicles present in the circulation that are involved in cell-to-cell communication and regulation of different biological processes. MicroRNAs (miRNAs) are part of their cargo and are potential biomarkers. Methods of exoso
Externí odkaz:
https://doaj.org/article/64d06e731dc849caa3aad20f369fb54f
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:
Hicham Filali, Inmaculada Martin-Burriel, Frank Harders, Luis Varona, Jaber Lyahyai, Pilar Zaragoza, Martí Pumarola, Juan J Badiola, Alex Bossers, Rosa Bolea
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e19909 (2011)
The pathogenesis of natural scrapie and other prion diseases remains unclear. Examining transcriptome variations in infected versus control animals may highlight new genes potentially involved in some of the molecular mechanisms of prion-induced path
Externí odkaz:
https://doaj.org/article/a29a24783b1d4d98ba41f8471281c295
Autor:
Natalia Lorenzana-Blanco, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Milagros Garcia-Ferreira, Silvia Campos-Seco, Carmen Ayuso, Ester Carreño
Publikováno v:
European Journal of Ophthalmology. 33:735-744
Aim To describe the role of multicolour reflectance images (MCI) in the phenotypic diagnosis of inherited retinal disorders (IRDs). Methods A retrospective review of consecutive patients affected by IRDs examined with MCI techniques from January to D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997bc0c01392d0d8c7b283aea229dd8d
https://doi.org/10.1177/11206721221138891
https://doi.org/10.1177/11206721221138891
Autor:
Sonia Pérez-Lázaro, Tomás Barrio, Susana B. Bravo, Eloisa Sevilla, Alicia Otero, María del Pilar Chantada-Vázquez, Inmaculada Martín-Burriel, Jesús R. Requena, Juan J. Badiola, Rosa Bolea
Publikováno v:
Veterinary Quarterly, Vol 44, Iss 1, Pp 1-15 (2024)
Current diagnostic methods for prion diseases only work in late stages of the disease when neurodegeneration is irreversible. Therefore, biomarkers that can detect the disease before the onset of clinical symptoms are necessary. High-throughput disco
Externí odkaz:
https://doaj.org/article/71ad7db0b36348569bd41d035cee86fe
Autor:
Kazushige Tsunoda, Camiel J. F. Boon, Ester Carreño, Xiao Liu, Rachel M. Huckfeldt, Mark E. Pennesi, Andrew R. Webster, Anthony G. Robson, Elise Héon, Gavin Arno, Susanne Kohl, Belen Jimenez-Rolando, Michel Michaelides, Carmen Ayuso, Omar A. Mahroo, Eyal Banin, Samer Khateb, Takaaki Hayashi, Bernd Wissinger, Arif O. Khan, Eberhart Zrenner, Alberta A H J Thiadens, Ajoy Vincent, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Thales Antonio Cabral de Guimaraes, Xuan-Thanh-An Nguyen, Michalis Georgiou, Almudena Avila-Fernandez, Mauricio E Vargas, Emanuel R. de Carvalho, Shaun Michael Leo, Yu Fujinami-Yokokawa, Dror Sharon, Fadi Nasser, Kaoru Fujinami, Blanca Garcia-Sandoval
Publikováno v:
American journal of ophthalmology, 230, 1-11. Elsevier USA
American Journal of Ophthalmology, 230, 1-11. Elsevier Inc.
American Journal of Ophthalmology, 230. ELSEVIER SCIENCE INC
American Journal of Ophthalmology
American Journal of Ophthalmology, 230, 1-11. Elsevier Inc.
American Journal of Ophthalmology, 230. ELSEVIER SCIENCE INC
American Journal of Ophthalmology
Highlights • KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes. • Disease course can be unpredictable and may severely affect children and young adults. • Fin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d64991d77208076740a746fc4a5daa
http://www.scopus.com/inward/record.url?scp=85108876875&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85108876875&partnerID=8YFLogxK