Search details
1.
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
PLoS Genet
; 18(6): e1009798, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35675330
2.
Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration.
Adv Exp Med Biol
; 1415: 27-36, 2023.
Article
in English
| MEDLINE | ID: mdl-37440010
3.
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
Int J Mol Sci
; 23(3)2022 Jan 30.
Article
in English
| MEDLINE | ID: mdl-35163536
4.
Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium.
Int J Mol Sci
; 23(18)2022 Sep 08.
Article
in English
| MEDLINE | ID: mdl-36142331
5.
A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
Int J Mol Sci
; 23(4)2022 Feb 17.
Article
in English
| MEDLINE | ID: mdl-35216333
6.
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Int J Mol Sci
; 23(19)2022 Oct 09.
Article
in English
| MEDLINE | ID: mdl-36233305
7.
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
Hum Mol Genet
; 27(19): 3340-3352, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29947801
8.
Triple Vectors Expand AAV Transfer Capacity in the Retina.
Mol Ther
; 26(2): 524-541, 2018 02 07.
Article
in English
| MEDLINE | ID: mdl-29292161
9.
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Mol Genet Metab
; 125(1-2): 181-191, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30064963
10.
The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina.
Adv Exp Med Biol
; 1074: 545-551, 2018.
Article
in English
| MEDLINE | ID: mdl-29721986
11.
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Hum Mol Genet
; 24(24): 6958-74, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26405179
12.
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
Mol Genet Metab
; 121(4): 336-343, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28610912
13.
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
Am J Med Genet A
; 173(8): 2210-2218, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28573831
14.
Lysosomal Trafficking Regulator (LYST).
Adv Exp Med Biol
; 854: 745-50, 2016.
Article
in English
| MEDLINE | ID: mdl-26427484
15.
A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects.
Adv Exp Med Biol
; 854: 177-83, 2016.
Article
in English
| MEDLINE | ID: mdl-26427409
16.
Pituitary morphovolumetric changes in Alström syndrome.
J Neuroradiol
; 43(3): 195-9, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-26704672
17.
Alström Syndrome: Mutation Spectrum of ALMS1.
Hum Mutat
; 36(7): 660-8, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25846608
18.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 1-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25296579
19.
Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.
Exp Eye Res
; 118: 30-5, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24200520
20.
Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.
Mol Cell Proteomics
; 11(6): M111.011767, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22199231