Suchergebnisse - "RCBTB1 protein, human"

PubPharm (20)

1

Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy

enthalten in: Cells | 2023

von Huang, Z. | Zhang, D. | Chen, S. | +4

2

Two cases of unilateral cone-rod dysfunction presenting in adult females

enthalten in: Documenta ophthalmologica. Advances in ophthalmology | 2022

von Choi, S. | Pandit, S. | Nair, A. | +3

3

Mutation spectrum in a cohort with familial exudative vitreoretinopathy

enthalten in: Molecular genetics & genomic medicine | 2022

von Qu, N. | Li, W. | Han, D. | +9

4

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

enthalten in: Ophthalmic genetics | 2022

von Catomeris, A. | Ballios, B. | Sangermano, R. | +6

5

Genetics of ovarian insufficiency and defects of folliculogenesis

enthalten in: Best practice & research. Clinical endocrinology & metabolism | 2022

von França, M. | Mendonca, B.

6

Start and End with Genetics : RCBTB1 and Beyond

enthalten in: Current eye research | 2021

von Yang, J. | Sun, W. | Zhang, Q.

CommentOn: Curr Eye Res. 2021 Jun;46(6):839-844. - PMID 33104391

7

Phenotype Variability in the Patients of Familial Exudative Vitreoretinopathy : the RCBTB1 case

enthalten in: Current eye research | 2021

von Chung, M. | Chen, S. | Jiang, Y.

CommentOn: Curr Eye Res. 2021 Jun;46(6):839-844. - PMID 33104391

8

Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium

enthalten in: Journal of cellular and molecular medicine | 2021

von Huang, Z. | Zhang, D. | Chen, S. | +5

9

Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR

enthalten in: Current eye research | 2021

von Yang, J. | Xiao, X. | Sun, W. | +3

CommentIn: Curr Eye Res. 2021 Dec;46(12):1932-1933. - PMID 34011215

10

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy

enthalten in: Ophthalmic genetics | 2021

von Huang, Z. | Zhang, D. | Thompson, J. | +13