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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1469686
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- Article
A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population.
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- Ophthalmic Research, 2005, v. 37, n. 6, p. 310, doi. 10.1159/000087791
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- Publication type:
- Article
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045495
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- Article
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
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- 2018
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- Publication type:
- journal article
New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 9, p. 986, doi. 10.1038/sj.ejhg.5201671
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- Article
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
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- Publication type:
- Article
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1037-7
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- Article
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
- Published in:
- 2019
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- Publication type:
- journal article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
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- 2016
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- Publication type:
- journal article
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
- Published in:
- 2013
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- Publication type:
- journal article
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12090
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- Publication type:
- Article
Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists.
- Published in:
- FASEB Journal, 2014, v. 28, n. 1, p. 117, doi. 10.1096/fj.13-239442
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- Publication type:
- Article
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
- Published in:
- PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
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- Publication type:
- Article
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation.
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- Ophthalmic Research, 2015, v. 53, n. 1, p. 30, doi. 10.1159/000365109
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- Publication type:
- Article
Phenotype Associated with the H626P Mutation and Other Changes in the TGFBIGene in Czech Families.
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- Ophthalmic Research, 2008, v. 40, n. 2, p. 105, doi. 10.1159/000115325
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- Publication type:
- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245
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- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143
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- Article
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 972, doi. 10.1093/hmg/ddu509
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- Publication type:
- Article
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194
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- Article
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 863, doi. 10.1093/hmg/ddr520
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- Publication type:
- Article
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
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- Acta Ophthalmologica (1755375X), 2023, v. 101, n. 6, p. 679, doi. 10.1111/aos.15654
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- Article
Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 4, p. 431, doi. 10.1111/aos.15022
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- Publication type:
- Article
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.
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- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 2, p. e213, doi. 10.1111/j.1755-3768.2009.01802.x
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- Article
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
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- Biochemical Society Transactions, 2016, v. 44, n. 5, p. 1245, doi. 10.1042/BST20160156
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- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
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- Article
Mutations in Collagen, Type XVII, Alpha 1 ( COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED).
- Published in:
- Human Mutation, 2015, v. 36, n. 4, p. 463, doi. 10.1002/humu.22764
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- Publication type:
- Article
Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.
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- Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
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- Publication type:
- Article
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
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- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9495
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- Publication type:
- Article
The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
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- Human Molecular Genetics, 2010, v. 19, n. 12, p. 2421, doi. 10.1093/hmg/ddq125
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- Article
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
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- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1358, doi. 10.1093/hmg/ddq012
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- Article
X-linked cataract and Nance-Horan syndrome are allelic disorders.
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- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2643, doi. 10.1093/hmg/ddp206
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- Article
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
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- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3089, doi. 10.1093/hmg/ddh337
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- Publication type:
- Article
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065
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- Article
Mutations in the CACNA1F and NYX genes in British CSNBX families.
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- Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9106
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- Article
Sequence variation within the RPGR gene: Evidence for a founder complex allele.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W
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- Article
Novel frameshift mutations in the RP2 gene and polymorphic variants.
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- Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3
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- Publication type:
- Article
Novel mutations of the RPGR gene in RP3 families.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4
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- Publication type:
- Article
Investigation of SLA4A3 as a candidate gene for human retinal disease.
- Published in:
- Journal of Negative Results in Biomedicine, 2016, v. 15, p. 1, doi. 10.1186/s12952-016-0054-z
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- Publication type:
- Article