Detalhe da pesquisa
1.
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
Hum Mol Genet
; 33(6): 491-500, 2024 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-37971355
2.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36243009
3.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35882526
4.
Current methods for monitoring Pseudomonas syringae biofilm development.
Lett Appl Microbiol
; 77(2)2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38337184
5.
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Int J Mol Sci
; 25(7)2024 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38612555
6.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Hum Mol Genet
; 30(17): 1591-1606, 2021 08 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34046667
7.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Clin Genet
; 104(4): 418-426, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37321975
8.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35332618
9.
Impact of electrolyte solution on electrochemical oxidation treatment of Escherichia coli K-12 by boron-doped diamond electrodes.
Lett Appl Microbiol
; 74(6): 924-931, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35239229
10.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet
; 102(3): 447-459, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29499165
11.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Am J Hum Genet
; 102(4): 528-539, 2018 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29526280
12.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol
; 21(1): 249, 2021 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34090370
13.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
14.
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Am J Med Genet A
; 182(1): 219-223, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31729179
15.
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).
Neuroophthalmology
; 44(6): 413-414, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33408429
16.
Daptomycin Pore Formation and Stoichiometry Depend on Membrane Potential of Target Membrane.
Antimicrob Agents Chemother
; 63(1)2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30323037
17.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26749309
18.
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Genet Med
; 21(9): 2092-2102, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30733599
19.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Exp Eye Res
; 182: 160-166, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30851240
20.
Simple Way to Detect Trp to Tb3+ Resonance Energy Transfer in Calcium-Binding Peptides Using Excitation Spectrum.
J Fluoresc
; 29(1): 9-14, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30471022