Detalhe da pesquisa
1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet
; 20(5): e1011230, 2024 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38713708
2.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35882526
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32307445
9.
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
10.
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
11.
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
BMC Ophthalmol
; 18(1): 250, 2018 Sep 17.
Artigo
Inglês
| MEDLINE | ID: mdl-30223810
12.
Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.
Mol Biol Rep
; 44(6): 441, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29019065
13.
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
Mol Biol Rep
; 44(6): 435-440, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28849415
14.
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Am J Med Genet A
; 170(7): 1843-8, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27256633
15.
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Graefes Arch Clin Exp Ophthalmol
; 254(9): 1833-9, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27113771
16.
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
Ann Hum Genet
; 79(1): 1-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25441224
17.
Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.
Ophthalmic Res
; 53(1): 30-5, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25500497
18.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785
19.
The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.
J Neural Transm (Vienna)
; 120(6): 977-82, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23653221
20.
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Acta Ophthalmol
; 101(6): 679-686, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-36883248