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1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34662339
2.
A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Adv Exp Med Biol
; 1415: 335-340, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37440053
3.
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Physiol Genomics
; 49(4): 216-229, 2017 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28130426
4.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Physiol Genomics
; 48(12): 922-927, 2016 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27764769
5.
Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
Mol Vis
; 21: 273-84, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25814825
6.
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Hum Gene Ther
; 30(5): 632-650, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30499344
7.
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Ophthalmic Genet
; 39(1): 73-79, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-28945494
8.
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
Genes (Basel)
; 8(9)2017 08 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-28837078
9.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Genes (Basel)
; 8(10)2017 10 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-29065517
10.
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Genet Test Mol Biomarkers
; 21(2): 66-73, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28005406
11.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
PLoS One
; 10(9): e0136561, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26352687
12.
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Invest Ophthalmol Vis Sci
; 55(9): 5510-21, 2014 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-25082885
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