Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna Esteve-Garcia"'
Autor:
Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Miquel
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels
Externí odkaz:
https://doaj.org/article/74f76043e3574e97921cb373b5339ff2
Autor:
Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy patte
Externí odkaz:
https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2
Autor:
Alba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, Elena López, Anna Esteve-Garcia, Sergi Ruiz, Meritxell Vázquez, Laura Sararols, Marc Biarnés
Publikováno v:
Diagnostics, Vol 14, Iss 9, p 878 (2024)
Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy. These conditions are distinguished by bilateral and relatively symmetrical abnormalit
Externí odkaz:
https://doaj.org/article/06eb48e077c146d988cece4074becf24
Autor:
Cinthia Aguilera, Ariadna Padró-Miquel, Anna Esteve-Garcia, Pau Cerdà, Raquel Torres-Iglesias, Núria Llecha, Antoni Riera-Mestre
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 772
Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d8c111061be9eadd4f652045c771a5d
https://doi.org/10.3390/genes14030772
https://doi.org/10.3390/genes14030772