Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Beatriz Ponte-Zuñiga"'
Autor:
Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicin
Externí odkaz:
https://doaj.org/article/e7abdf515c274b4ab1d3a471f239b1f2
Autor:
Sofia M. Calado, Ana B. Garcia-Delgado, Berta De la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 251-254 (2018)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a h
Externí odkaz:
https://doaj.org/article/9340379e151f4186b0f2dfce0b98d223
Autor:
Ana B. Garcia-Delgado, Sofia M. Calado, Lourdes M. Valdes-Sanchez, Adoracion Montero-Sanchez, Beatriz Ponte-Zuñiga, Berta de la Cerda, Shom Shanker Bhattacharya, Francisco J. Diaz-Corrales
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line
Externí odkaz:
https://doaj.org/article/25701f14c20e4f0997f383d28d1405be
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:
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:
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:
Berta de la Cerda, María José Morillo-Sánchez, Lourdes Valdés-Sánchez, Beatriz Ponte-Zuñiga, Ana B. García-Delgado, Francisco J. Diaz-Corrales
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae9058f62c3157b8aff83d2eccead5d
http://europepmc.org/articles/PMC8127272
http://europepmc.org/articles/PMC8127272
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:
Berta de la Cerda, Alberto Cañibano-Hernández, Lourdes Valdés-Sánchez, Francisco J. Diaz-Corrales, Beatriz Ponte-Zuñiga, Ana B. García-Delgado
Publikováno v:
Stem Cell Research, Vol 53, Iss, Pp 102301-(2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64975511bbc751822a2bce9c5db9d232
https://hdl.handle.net/10668/4158
https://hdl.handle.net/10668/4158
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