Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Luis Montes-Almanza"'
Autor:
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, Froylan Garcia‐Martínez, Luis Montes‐Almanza, Juan C. Zenteno
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background Retinal dystrophies (RDs) are the most common cause of inherited blindness worldwide and are caused by genetic defects in about 300 different genes. While targeted next‐generation sequencing (NGS) has been demonstrated to be a r
Externí odkaz:
https://doaj.org/article/4f8c2030f5db48fdbf5b4b3d38238ac7
Publikováno v:
Revista de Investigación Clínica, Vol 74, Iss 4 (2022)
Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in m
Externí odkaz:
https://doaj.org/article/db420bae54974f49b9ba259ac3eaf6f1
Autor:
Leire Irusteta, Arturo Ramírez-Miranda, Alejandro Navas-Pérez, Luis Montes-Almanza, José Arteaga, Froylán García-Martínez, Enrique Graue-Hernández, Juan C. Zenteno
Publikováno v:
Ophthalmic genetics. 43(5)
The purpose of this study is to describe the corneal clinical spectrum and the intrafamilial phenotypic differences in an extended pedigree suffering from stromal corneal dystrophy due to the rare p.Ala546Asp mutation in TGFBI.A total of 15 members f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d4cdbf876a810ce746358a1824d2b52
https://pubmed.ncbi.nlm.nih.gov/35470743
https://pubmed.ncbi.nlm.nih.gov/35470743