Cargando…
Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo...
Autores principales: | Whelan, Laura, Dockery, Adrian, Wynne, Niamh, Zhu, Julia, Stephenson, Kirk, Silvestri, Giuliana, Turner, Jacqueline, O’Byrne, James J., Carrigan, Matthew, Humphries, Peter, Keegan, David, Kenna, Paul F., Farrar, G. Jane |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016747/ https://www.ncbi.nlm.nih.gov/pubmed/31963381 http://dx.doi.org/10.3390/genes11010105 |
Ejemplares similares
-
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
por: Dockery, Adrian, et al.
Publicado: (2017) -
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
por: Stephenson, Kirk A. J., et al.
Publicado: (2021) -
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
por: Stephenson, Kirk A. J., et al.
Publicado: (2023) -
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
por: Stephenson, Kirk A. J., et al.
Publicado: (2022) -
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
por: Stephenson, Kirk, et al.
Publicado: (2018)