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Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis.
- Published in:
- Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2010, v. 71, n. 1, p. 6, doi. 10.1007/s00056-010-0908-9
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- Publication type:
- Article
Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6094, doi. 10.3390/ijms23116094
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- Publication type:
- Article
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9353, doi. 10.3390/ijms21249353
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- Publication type:
- Article
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 20, p. 6523, doi. 10.1093/nar/gkn737
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- Publication type:
- Article
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
- Published in:
- Nature Genetics, 2008, v. 40, n. 7, p. 892, doi. 10.1038/ng.170
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- Publication type:
- Article
Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
- Published in:
- 2015
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- Publication type:
- journal article
In vivo imaging reveals novel aspects of retinal disease progression in Rs1h<sup> −/Y</sup> mice but no therapeutic effect of carbonic anhydrase inhibition.
- Published in:
- Veterinary Ophthalmology, 2012, v. 15, p. 123, doi. 10.1111/j.1463-5224.2012.01039.x
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- Publication type:
- Article
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46063-8
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- Publication type:
- Article
Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126636
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- Publication type:
- Article
A Circulating MicroRNA Profile Is Associated with Late-Stage Neovascular Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107461
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- Publication type:
- Article
A Novel Antibody against Human Properdin Inhibits the Alternative Complement System and Specifically Detects Properdin from Blood Samples.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096371
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- Publication type:
- Article
Modelling the Genetic Risk in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037979
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- Publication type:
- Article
CFH, C3 and ARMS2 Are Significant Risk Loci for Susceptibility but Not for Disease Progression of Geographic Atrophy Due to AMD.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007418
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- Publication type:
- Article
Systemic Complement Activation in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002593
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- Publication type:
- Article
A mega-analysis of expression quantitative trait loci in retinal tissue.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008934
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- Publication type:
- Article
Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data.
- Published in:
- Human Genetics, 2020, v. 139, n. 3, p. 401, doi. 10.1007/s00439-019-02029-1
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- Publication type:
- Article
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 249, doi. 10.1007/s004390000375
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- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Publication type:
- Article
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 445, doi. 10.1038/ejhg.2010.217
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
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- Publication type:
- Article
Challenges and opportunities for modeling monogenic and complex disorders of the human retina via induced pluripotent stem cell technology.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 3, p. 221, doi. 10.1515/medgen-2021-2092
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- Publication type:
- Article
TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 21, p. 6809, doi. 10.1523/JNEUROSCI.5546-08.2009
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- Publication type:
- Article
The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice.
- Published in:
- Journal of Neuroinflammation, 2024, v. 21, n. 1, p. 1, doi. 10.1186/s12974-024-03021-x
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- Publication type:
- Article
The Retinome -- Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
- Published in:
- BMC Genomics, 2004, v. 5, p. 50, doi. 10.1186/1471-2164-5-50
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- Publication type:
- Article
Gene panel testing of 5589 <italic>BRCA1/2</italic>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
- Published in:
- Cancer Medicine, 2018, v. 7, n. 4, p. 1349, doi. 10.1002/cam4.1376
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- Publication type:
- Article
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1147037
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- Publication type:
- Article
Retinoschisin and novel Na/K-ATPase interaction partners Kv2.1 and Kv8.2 define a growing protein complex at the inner segments of mammalian photoreceptors.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 8, p. 1, doi. 10.1007/s00018-022-04409-9
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- Publication type:
- Article
Sorsby's fundus dystrophy: a genetically homogeneous condition.
- Published in:
- Der Ophthalmologe, 1998, v. 95, n. 5, p. 287, doi. 10.1007/s003470050274
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- Publication type:
- Article
Familial juvenile macular dystrophy with congenital hypotrichosis capitis.
- Published in:
- Der Ophthalmologe, 1998, v. 95, n. 4, p. 233, doi. 10.1007/s003470050268
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- Publication type:
- Article
North Carolina macular dystrophy: a hereditary macular dystrophy with good visual prognosis.
- Published in:
- Der Ophthalmologe, 1998, v. 95, n. 1, p. 13, doi. 10.1007/s003470050229
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- Publication type:
- Article
Polarized desmosome and hemidesmosome shedding via small extracellular vesicles is an early indicator of outer blood‐retina barrier dysfunction.
- Published in:
- Journal of Extracellular Biology, 2023, v. 2, n. 10, p. 1, doi. 10.1002/jex2.116
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- Publication type:
- Article
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
- Published in:
- Carcinogenesis, 2006, v. 27, n. 11, p. 2201, doi. 10.1093/carcin/bgl067
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- Publication type:
- Article
The Role of the Complement System in Age-Related Macular Degeneration.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
The Role of the Complement System in Age-Related Macular Degeneration.
- Published in:
- Deutsches Ärzteblatt International, 2014, v. 111, n. 8, p. 133, doi. 10.3238/arztebl.2014.0133
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- Publication type:
- Article
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184
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- Publication type:
- Article
Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration.
- Published in:
- Journal of Neurochemistry, 2009, v. 110, n. 6, p. 1863, doi. 10.1111/j.1471-4159.2009.06286.x
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- Publication type:
- Article
The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Epistatic interactions of genetic loci associated with age-related macular degeneration.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92351-4
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- Publication type:
- Article
Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-4513.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 6, p. 875, doi. 10.1093/hmg/ddab292
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- Publication type:
- Article
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 9, p. 1630, doi. 10.1093/hmg/ddy070
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- Publication type:
- Article
Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6361, doi. 10.1093/hmg/ddv346
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- Publication type:
- Article
Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0167181
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- Publication type:
- Article
Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 6, p. 1010, doi. 10.1038/mt.2008.57
- By:
- Publication type:
- Article
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.
- Published in:
- Genetics, 2017, v. 205, n. 2, p. 919, doi. 10.1534/genetics.116.195966
- By:
- Publication type:
- Article
Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 11, p. 1766, doi. 10.3390/cells11111766
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- Publication type:
- Article
Assigning Co-Regulated Human Genes and Regulatory Gene Clusters.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 9, p. 2395, doi. 10.3390/cells10092395
- By:
- Publication type:
- Article
Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 10, p. 2267, doi. 10.3390/cells9102267
- By:
- Publication type:
- Article
Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD).
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 10, p. 2257, doi. 10.3390/cells9102257
- By:
- Publication type:
- Article
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
- Published in:
- 2016
- By:
- Publication type:
- journal article