Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Belén García-Bohórquez"'
Autor:
Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102374- (2024)
Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) t
Externí odkaz:
https://doaj.org/article/a17a668f163e49dea766892e88041dc8
Autor:
Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
BackgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in E
Externí odkaz:
https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727
Autor:
Belén García Bohórquez, Elena Aller, Ana Rodríguez Muñoz, Teresa Jaijo, Gema García García, José M. Millán
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f107136e3b231ca63340522f6041a64e
https://www.frontiersin.org/articles/10.3389/fcell.2021.645600/full
https://www.frontiersin.org/articles/10.3389/fcell.2021.645600/full
Autor:
Gema García-García, David Salom, Elena Aller, Ana Rodríguez-Muñoz, José M. Millán, Belén García-Bohórquez, Teresa Jaijo, Patricia Udaondo, Ana Hervas-Ontiveros
Publikováno v:
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Purpose To highlight the challenge of correct reproductive and therapeutic counselling in complex pedigrees with different inherited retinal dystrophies. Methods 208 patients diagnosed with non-syndromic inherited retinal dystrophies underwent full o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b561d067491b0264a2eb9b3d1a3a329
https://pubmed.ncbi.nlm.nih.gov/33411470
https://pubmed.ncbi.nlm.nih.gov/33411470
Autor:
Gema García-García, Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, José M. Millán
Publikováno v:
Genes
Genes, Vol 11, Iss 473, p 473 (2020)
Genes, Vol 11, Iss 473, p 473 (2020)
Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide. Besides clinically, these vision loss disorders present a high genetic and allelic he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fefcefa075c6f27e5006f0dd7f9ec792
http://europepmc.org/articles/PMC7290804
http://europepmc.org/articles/PMC7290804
Autor:
Elena Aller, Gema García-García, Carla Fuster-García, José M. Millán, Teresa Jaijo, Ana Rodríguez-Muñoz, Belén García-Bohórquez
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6723, p 6723 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694f6bf9dbceb9c4d192b55cb412f1bb
https://doi.org/10.3390/ijms22136723
https://doi.org/10.3390/ijms22136723
Autor:
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has re
Externí odkaz:
https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b