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Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00688
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- Article
Highly Efficient Neural Conversion of Human Pluripotent Stem Cells in Adherent and Animal-Free Conditions.
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- Stem Cells Translational Medicine, 2017, v. 6, n. 4, p. 1217, doi. 10.1002/sctm.16-0371
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- Article
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.
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- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166397
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- Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
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- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
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- Article
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
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- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0177-6
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- Article
TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.
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- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148678
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- Article
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
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- Scientific Reports, 2016, p. 19450, doi. 10.1038/srep19450
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- Article
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
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- Scientific Reports, 2015, p. 12910, doi. 10.1038/srep12910
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- Article
Concise Review: Reactive Astrocytes and Stem Cells in Spinal Cord Injury: Good Guys or Bad Guys?
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- Stem Cells, 2015, v. 33, n. 4, p. 1036, doi. 10.1002/stem.1959
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- Article
Non-coding RNAs in pluripotency and neural differentiation of human pluripotent stem cells.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00132
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- Article
Brief Report: Astrogliosis Promotes Functional Recovery of Completely Transected Spinal Cord Following Transplantation of hESC-Derived Oligodendrocyte and Motoneuron Progenitors.
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- Stem Cells, 2014, v. 32, n. 2, p. 594, doi. 10.1002/stem.1562
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- Article
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
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- Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439
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- Article
Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of 'Linked Trans-Acting Epistasis'.
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- Annals of Human Genetics, 2014, v. 78, n. 1, p. 62, doi. 10.1111/ahg.12042
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- Article
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52
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- Article
Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein.
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- International Journal of Molecular Sciences, 2013, v. 14, n. 7, p. 15121, doi. 10.3390/ijms140715121
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- Article
Hypoxia Increases the Yield of Photoreceptors Differentiating from Mouse Embryonic Stem Cells and Improves the Modeling of Retinogenesis In Vitro.
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- Stem Cells, 2013, v. 31, n. 5, p. 966, doi. 10.1002/stem.1339
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- Article
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1507
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- Article
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 338, doi. 10.1038/ejhg.2012.158
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- Article
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.
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- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570
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- Article
CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance.
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- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003040
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- Article
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4126, doi. 10.1093/hmg/dds242
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- 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
A map of human microRNA variation uncovers unexpectedly high levels of variability.
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- Genome Medicine, 2012, v. 4, n. 8, p. 1, doi. 10.1186/gm363
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- Article
CRB1 mutations in inherited retinal dystrophies.
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- Human Mutation, 2012, v. 33, n. 2, p. 306, doi. 10.1002/humu.21653
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- Article
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation.
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- Human Mutation, 2012, v. 33, n. 1, p. 73, doi. 10.1002/humu.21640
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- Article
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
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- 2012
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- Publication type:
- journal article
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1289, doi. 10.1038/ejhg.2011.130
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- Article
Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?
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- Annals of Human Genetics, 2011, v. 75, n. 6, p. 688, doi. 10.1111/j.1469-1809.2011.00679.x
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- Article
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
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- Human Mutation, 2011, v. 32, n. 4, p. E2091, doi. 10.1002/humu.21460
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- Article
Concise Review: Stem Cells for the Treatment of Cerebellar-Related Disorders.
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- Stem Cells, 2011, v. 29, n. 4, p. 564, doi. 10.1002/stem.619
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- Article
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
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- Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543
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- Article
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
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- Human Mutation, 2010, v. 31, n. 11, p. E1772, doi. 10.1002/humu.21334
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- Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
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- Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
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- Article
EYS is a major gene for rod-cone dystrophies in France.
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- Human Mutation, 2010, v. 31, n. 5, p. E1406, doi. 10.1002/humu.21249
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- Article
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
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- 2010
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- Publication type:
- journal article
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
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- BMC Medical Genetics, 2010, v. 11, p. 145, doi. 10.1186/1471-2350-11-145
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- Article
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
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- Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995
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- Article
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1052, doi. 10.1093/hmg/ddn440
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- Article
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1285, doi. 10.1038/ng.241
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- 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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- Article
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
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- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1699, doi. 10.1093/hmg/ddm118
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- 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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- Article
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).
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- Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487
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- Article
Exclusion of Four Candidate Genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as Causative of Autosomal Recessive Retinitis Pigmentosa.
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- Ophthalmic Research, 2006, v. 38, n. 1, p. 19, doi. 10.1159/000088493
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- Article
A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3
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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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- Article
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
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- Human Molecular Genetics, 2005, v. 14, n. 2, p. 255, doi. 10.1093/hmg/ddi023
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- Publication type:
- Article
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
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- Human Mutation, 2004, v. 24, n. 1, p. 76, doi. 10.1002/humu.20059
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- Article
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3209, doi. 10.1093/hmg/11.25.3209
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- Article
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
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- Human Genetics, 2002, v. 110, n. 5, p. 513, doi. 10.1007/s00439-002-0711-9
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- Article