Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Manuel Ramos Jiménez"'
Autor:
Elena Fernández-Suárez, María González-del Pozo, Alejandro García-Núñez, Cristina Méndez-Vidal, Marta Martín-Sánchez, José Manuel Mejías-Carrasco, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to cone-dysfunction, which is consistent wit
Externí odkaz:
https://doaj.org/article/57db66d951b541db8ca7fb0b46677dc5
Autor:
María González-del Pozo, Elena Fernández-Suárez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Marta Martín-Sánchez, Enrique Rodríguez-de la Rúa, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Salud Borrego, Guillermo Antiñolo
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based algorithm for the accurate interpretation of variants in inherited
Externí odkaz:
https://doaj.org/article/2e2ddbdea629409a962bb14a89a0cc7d
Autor:
Guillermo Antiñolo-Gil, Mireia López-Domínguez, Beatriz Ponte-Zuñiga, María José Morillo-Sánchez, Francisco de Borja Domínguez-Serrano, Manuel Ramos-Jiménez, Marina Soto-Sierra, María González-del Pozo, Enrique Rodríguez de la Rúa-Franch
Publikováno v:
The Open Ophthalmology Journal. 15:201-205
Purpose: To describe the clinical and genetic characteristics (mutation in RS1 gene) of a Spanish family with X-linked retinoschisis (XLRS) associated with retinitis punctata albescens (RPA). Methods: The detailed ophthalmological examination include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b65c97aa7f92f0c1e0531f3cf1df26fc
https://doi.org/10.2174/1874364102115010201
https://doi.org/10.2174/1874364102115010201
Autor:
Pedro Molina-Solana, María José Morillo-Sánchez, Cristina Méndez-Vidal, Manuel Ramos-Jiménez, Borja Domínguez-Serrano, Guillermo Antiñolo, Enrique Rodríguez-de-la-Rúa-Franch
Publikováno v:
Arquivos Brasileiros de Oftalmologia, Vol 84, Iss 4, Pp 391-394 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Arquivos Brasileiros de Oftalmologia, Volume: 84, Issue: 4, Pages: 391-394, Published: 14 MAY 2021
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 14 MAY 2021
Digital.CSIC. Repositorio Institucional del CSIC
instname
Arquivos Brasileiros de Oftalmologia, Volume: 84, Issue: 4, Pages: 391-394, Published: 14 MAY 2021
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 14 MAY 2021
[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e8f3783c6cfb847c34fc616b5b2bd5f7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000400391&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000400391&tlng=en
Autor:
Mireia López-Domínguez, Marta Martín-Sánchez, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Guillermo Antiñolo, Marina Soto-Sierra, Enrique Rodríguez-de-la-Rúa, Beatriz Ponte-Zuñiga
Publikováno v:
European Journal of Ophthalmology. 32:NP77-NP81
[Purpose] To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).
[Methods] The detailed ophthalmological examination included best corrected visua
[Methods] The detailed ophthalmological examination included best corrected visua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b6b03c7aefce936e164383f3f367fa
https://doi.org/10.1177/11206721211010615
https://doi.org/10.1177/11206721211010615
Autor:
Guillermo Antiñolo, Enrique Rodríguez-de-la-Rúa-Franch, Cristina Méndez-Vidal, Borja Domínguez-Serrano, María José Morillo-Sánchez, Manuel Ramos-Jiménez, P. Molina-Solana
Publikováno v:
Arquivos Brasileiros de Oftalmologia.
[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf3e0bfaa8db625a6f9e5f1a10827ed
http://hdl.handle.net/10261/265509
http://hdl.handle.net/10261/265509
Autor:
Manuel Ramos Jiménez, Pilar Llavero Valero, María González del Pozo, María José Morillo Sánchez, Beatriz Ponte Zuñiga, Enrique Rodríguez De La Rúa Franch, Guillermo Antiñolo
Publikováno v:
Ophthalmic Genetics. 40:288-292
Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e766600db2ff909b1bde07379cee4ee
https://doi.org/10.1080/13816810.2019.1633547
https://doi.org/10.1080/13816810.2019.1633547
Autor:
Marina, Soto-Sierra, María José, Morillo-Sánchez, Marta, Martín-Sánchez, Manuel, Ramos-Jiménez, Mireia, López-Domínguez, Beatriz, Ponte-Zuñiga, Guillermo, Antiñolo, Enrique, Rodríguez-de-la-Rúa
Publikováno v:
European journal of ophthalmology. 32(5)
To describe the clinical and genetic characteristics (novel mutation inThe detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomograp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5608378fe1ffa71947e4452ad9bd7d78
https://pubmed.ncbi.nlm.nih.gov/33866859
https://pubmed.ncbi.nlm.nih.gov/33866859
Autor:
Pilar Llavero-Valero, María José Morillo-Sánchez, Nereida Bravo-Gil, Manuel Ramos Jiménez, Beatriz Ponte-Zuñiga, Mireia López-Domínguez, Guillermo Antiñolo, Enrique Rodríguez de la Rúa-Franch
Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation. Methods: A custom gene panel consisting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222fb949210162d15a0d9f93c529f4ee
Autor:
María José, Morillo Sánchez, Pilar, Llavero Valero, María, González-Del Pozo, Beatriz, Ponte Zuñiga, Guillermo, Antiñolo, Manuel, Ramos Jiménez, Enrique, Rodríguez De La Rúa Franch
Publikováno v:
Ophthalmic genetics. 40(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37e793ba63a6ea6be06e45af62ddc4f5
https://pubmed.ncbi.nlm.nih.gov/31264930
https://pubmed.ncbi.nlm.nih.gov/31264930