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Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
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- Human Genetics, 2000, v. 107, n. 3, p. 249, doi. 10.1007/s004390000375
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- Publication type:
- Article
Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology.
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- 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.
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- Cells (2073-4409), 2021, v. 10, n. 9, p. 2395, doi. 10.3390/cells10092395
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- Article
Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration.
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- Cells (2073-4409), 2020, v. 9, n. 10, p. 2267, doi. 10.3390/cells9102267
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- Publication type:
- Article
Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD).
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- Cells (2073-4409), 2020, v. 9, n. 10, p. 2257, doi. 10.3390/cells9102257
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- Publication type:
- Article
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.
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- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1147037
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- Publication type:
- Article
Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209328
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- Publication type:
- Article
Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration.
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- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0200739
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- Publication type:
- Article
Effects of genetic variants in the TSPO gene on protein structure and stability.
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- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195627
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- Publication type:
- Article
Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194321
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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.
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- Journal of Neuroscience, 2009, v. 29, n. 21, p. 6809, doi. 10.1523/JNEUROSCI.5546-08.2009
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- Publication type:
- Article
Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration.
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- 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
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
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- 2016
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- Publication type:
- journal article
Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis.
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- Journal of Neuroinflammation, 2014, v. 11, n. 1, p. 1, doi. 10.1186/1742-2094-11-3
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- Publication type:
- Article
Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis.
- Published in:
- 2014
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- Publication type:
- journal article
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
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- Carcinogenesis, 2006, v. 27, n. 11, p. 2201, doi. 10.1093/carcin/bgl067
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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.
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- Medizinische Genetik, 2021, v. 33, n. 3, p. 221, doi. 10.1515/medgen-2021-2092
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- Publication type:
- Article
Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 963, doi. 10.3390/ijms25020963
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- Publication type:
- Article
Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration.
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- 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.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9353, doi. 10.3390/ijms21249353
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- Article
The Retinome -- Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
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- BMC Genomics, 2004, v. 5, p. 50, doi. 10.1186/1471-2164-5-50
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- Publication type:
- Article
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.
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- Genetics, 2017, v. 205, n. 2, p. 919, doi. 10.1534/genetics.116.195966
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- Publication type:
- Article
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
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- 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.
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- 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
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
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- Nature Genetics, 2008, v. 40, n. 7, p. 892, doi. 10.1038/ng.170
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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.
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- Molecular Therapy, 2008, v. 16, n. 6, p. 1010, doi. 10.1038/mt.2008.57
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- Publication type:
- Article
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
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- Genes, 2017, v. 8, n. 7, p. 170, doi. 10.3390/genes8070170
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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.
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- Cancer Medicine, 2018, v. 7, n. 4, p. 1349, doi. 10.1002/cam4.1376
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- Publication type:
- Article
A Circulating MicroRNA Profile Is Associated with Late-Stage Neovascular Age-Related Macular Degeneration.
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- 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.
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- 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.
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- 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.
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- 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.
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- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002593
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- Publication type:
- Article
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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- Nature Genetics, 1998, v. 19, n. 3, p. 260, doi. 10.1038/940
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- Publication type:
- Article
The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice.
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- Journal of Neuroinflammation, 2024, v. 21, n. 1, p. 1, doi. 10.1186/s12974-024-03021-x
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- Publication type:
- Article
Sorsby's fundus dystrophy: a genetically homogeneous condition.
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- 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.
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- 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
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.
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- Human Genetics, 2020, v. 139, n. 3, p. 401, doi. 10.1007/s00439-019-02029-1
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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
The Role of the Complement System in Age-Related Macular Degeneration.
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- 2014
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- 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
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.
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- 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
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.
- Published in:
- 2019
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- 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
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46063-8
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- Publication type:
- Article
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0418-0
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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.
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- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0167181
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- Publication type:
- Article
A mega-analysis of expression quantitative trait loci in retinal tissue.
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- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008934
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- Publication type:
- Article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 60, doi. 10.1002/humu.21134
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- Publication type:
- Article