Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Luis Montes-Almanza"'
1
Akademický článek
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach
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
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2
Akademický článek
Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases
Autor: Vianey Ordoñez-Labastida, Luis Montes-Almanza, Froylan García-Martínez, Juan C. Zenteno
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
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3
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant
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
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4
Akademický článek
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach.
Autor: Fabian‐Morales, Gerardo E.1 (AUTHOR), Ordoñez‐Labastida, Vianey1,2,3 (AUTHOR), Garcia‐Martínez, Froylan1 (AUTHOR), Montes‐Almanza, Luis1 (AUTHOR), Zenteno, Juan C.1,2,4 (AUTHOR) jczenteno@institutodeoftalmologia.org
Publikováno v: Molecular Genetics & Genomic Medicine. Oct2024, Vol. 12 Issue 10, p1-10. 10p.
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5
Akademický článek
Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.
Autor: Zenteno, Juan C.1,2,3 (AUTHOR), Chacón-Camacho, Oscar F.1,4 (AUTHOR), Ordoñez-Labastida, Vianey1,3,5 (AUTHOR), Miranda-Duarte, Antonio6 (AUTHOR), Del Castillo, Camila7 (AUTHOR), Nava, Jessica1 (AUTHOR), Mendoza, Fatima1 (AUTHOR), Montes-Almanza, Luis1 (AUTHOR), Mora-Roldán, Germán1 (AUTHOR), Gazarian, Karlen8 (AUTHOR)
Publikováno v: BioMed Research International. 1/13/2024, p1-8. 8p.
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6
Akademický článek
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.
Autor: Irusteta, Leire1 (AUTHOR), Ramírez-Miranda, Arturo1 (AUTHOR), Navas-Pérez, Alejandro1 (AUTHOR), Montes-Almanza, Luis2 (AUTHOR), Arteaga, José1 (AUTHOR), García-Martínez, Froylán2 (AUTHOR), Graue-Hernández, Enrique1 (AUTHOR), Zenteno, Juan C.2,3 (AUTHOR) jczenteno@institutodeoftalmologia.org
Publikováno v: Ophthalmic Genetics. Oct2022, Vol. 43 Issue 5, p589-593. 5p.
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