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1.
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
BMC Med Genet
; 20(1): 62, 2019 04 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30961538
2.
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
J Med Genet
; 50(12): 848-58, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24136862
3.
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.
Ophthalmic Genet
; 43(5): 679-684, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35652150
4.
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Acta Ophthalmol
; 100(3): e847-e858, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34327816
5.
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
PLoS One
; 16(7): e0253987, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34242285
6.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Brain Commun
; 3(2): fcab063, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34056600
7.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Sci Rep
; 10(1): 16736, 2020 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33028849
8.
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.
Genes (Basel)
; 8(10)2017 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29053642
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