Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Vianey Ordóñez-Labastida"'
Autor:
Vianey Ordóñez-Labastida, Alan Cárdenas-Conejo, Juan C. Huicochea-Montiel, Guadalupe E. Paredez-Rivera, Alberto Hidalgo-Bravo, Lucero M.J. Monterde-Cruz, María A. Aráujo-Solís
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 78, Iss 3 (2021)
Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually
Externí odkaz:
https://doaj.org/article/74af958cbf5e49c38b4d5c4904d03d15
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