Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maria Tarilonte"'
Autor:
Maria Tarilonte, Marta Corton, M.A. Moreno-Pelayo, M. Villamar, Alejandra Tamayo, Fiona Blanco-Kelly, Carmen Ayuso, Alejandra Damian
Publikováno v:
Archivos de la Sociedad Española de Oftalmología. 96:4-14
Resumen La aniridia es una enfermedad panocular caracterizada por hipoplasia iridiana, habitualmente acompanada de otras manifestaciones oculares, con gran variabilidad y solapamiento clinico con otras anomalias del segmento anterior y posterior. Est
Autor:
Guilermo Fernandez-Sanz, Patrick Calvas, Marta Corton, Carmen Ayuso, Patricia Ramos, Raquel Romero, Maria Tarilonte, Alejandra Tamayo, Fiona Blanco-Kelly, Blanca Gener, Saoud Tahsin Swafiri, Jennifer Moya, Cristina Villaverde
Publikováno v:
Journal of Medical Genetics. 59:428-437
BackgroundThe paired-domain transcription factor paired box gene 6 (PAX6) causes a wide spectrum of ocular developmental anomalies, including congenital aniridia, Peters anomaly and microphthalmia. Here, we aimed to functionally assess the involvemen
Autor:
Marta Corton, Carmen Ayuso, Fiona Blanco-Kelly, Alejandra Tamayo, M.A. Moreno-Pelayo, Maria Tarilonte, M. Villamar, Alejandra Damian
Publikováno v:
Archivos de la Sociedad Espanola de Oftalmologia. 96
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on
Autor:
Maria, Tarilonte, Patricia, Ramos, Jennifer, Moya, Guilermo, Fernandez-Sanz, Fiona, Blanco-Kelly, Saoud Tahsin, Swafiri, Cristina, Villaverde, Raquel, Romero, Alejandra, Tamayo, Blanca, Gener, Patrick, Calvas, Carmen, Ayuso, Marta, Corton
Publikováno v:
Journal of medical genetics. 59(5)
The paired-domain transcription factor paired box gene 6 (PAX6) causes a wide spectrum of ocular developmental anomalies, including congenital aniridia, Peters anomaly and microphthalmia. Here, we aimed to functionally assess the involvement of seven
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
C. Jeanton-Scaramouche, Carmen Ayuso, Marta Corton, Lucas Fares-Taie, Patricia Ramos, I. Arroyo, Alice Goldenberg, D. Aguilera, Nicolas Chassaing, Jean-Michel Rozet, V. Gaston, Patrick Calvas, Julie Plaisancié, Fiona Blanco-Kelly, H. Dollfus, Christine Francannet, Cristina Villaverde, Maria Tarilonte, J. C. Kaplan
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩
International audience; There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated techniques that have transformed research into gene expression by allow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a47ea9a42d72e3fff4855cdd9188f7
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03174772
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03174772
Autor:
María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior
Externí odkaz:
https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a