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3. Serpin Family B Member 2 Polymorphisms in Patients with Diabetic Kidney Disease: An Association Study.

Author

Tziastoudi, Maria, Pissas, Georgios, Golfinopoulos, Spyridon, Filippidis, Georgios, Poulianiti, Christina, Tsironi, Evangelia E., Dardiotis, Efthimios, Eleftheriadis, Theodoros, and Stefanidis, Ioannis

Subjects
TYPE 2 diabetes, DIABETIC retinopathy, DIABETES, PEOPLE with diabetes, POLYMORPHISM (Zoology), DIABETIC nephropathies, DIABETIC neuropathies
Abstract

Diabetic kidney disease (DKD) is a serious microvascular complication of type 2 diabetes mellitus (T2DM). Despite the numerous genetic loci that have been associated with the disease in T2DM, the genetic architecture of DKD remains unclear until today. In contrast to SERPINE1, the contribution of SERPINB2 has not been examined in DKD. Therefore, we conducted the first genetic association study of SERPINB2 to elucidate its role in DKD. In total, the study involved 197 patients with DKD, 155 patients with T2DM without microvascular complications (diabetic kidney disease, diabetic retinopathy, and diabetic neuropathy), and 246 healthy controls. The generalized odds ratio (ORG) was calculated to estimate the risk on DKD development. The present association study regarding SERPINB2 SNPs (rs4941230, rs3819335, rs13381217, rs6140) did not reveal any significant association between SERPINB2 variants and DKD. Additional studies in other populations are necessary to further investigate the role of this gene in the progression of diabetes mellitus and development of DKD. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Macular Ischemia Changes in Patients with Diabetic Macular Edema Treated with Aflibercept and Ranibizumab.

Author

Maris, Dimitrios, Dastiridou, Anna, Kotoula, Maria, Karathanou, Aikaterini, Tsironi, Evangelia E., Bargiota, Alexandra, and Androudi, Sofia

Subjects
MACULAR edema, AFLIBERCEPT, RANIBIZUMAB, PEOPLE with diabetes, ISCHEMIA
Abstract

Τhis study aims to assess changes in the fovea avascular zone (FAZ) in treatment naïve patients receiving aflibercept or ranibizumab injections for diabetic macular edema (DME). Best corrected visual acuity (BCVA) testing, OCT, and OCT-angiography imaging were performed at baseline and 1 month after each injection. Injections of either aflibercept or ranibizumab were administered monthly for 6 consecutive months. FAZ in the superficial (SCP) and the deep capillary plexus (DCP) using OCT angiography was recorded for each visit. Fifty eyes from fifty patients with a mean age of 67.0 ± 10.7 years were included in the study. Twenty-five patients received aflibercept and twenty-five received ranibizumab. BCVA was 40.8 ± 10.0 and increased to 52.1 ± 7.9 ETDRS letters at the last visit (p < 0.001). CRT was 295.6 ± 34.0 at baseline and 247.9 ± 29.7 at the last study visit (p < 0.001). SCP FAZ was 350.6 ± 79.5 μm2 at baseline and 339.0 ± 71.3 μm2 after sox monthly injections (p = 0.132). DCP FAZ was 558.6 ± 199.0 μm2 at baseline and 459.5 ± 156.1 μm2 after six monthly injections (p < 0.001). There was no effect of the choice of ranibizumab or aflibercept on DCP FAZ change (p = 0.277). In conclusion, treatment with 6 monthly injections of ranibizumab and aflibercept led to an increase in BCVA and a decrease in CRT and DCP FAZ area. Both drugs led to an improvement in DCP ischemia. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Bilateral acute iris transillumination syndrome following COVID-19 infection and moxifloxacin use.

Author

Lazari, Katerina, Androudi, Sofia, Dardiotis, Efthymios, Tsironi, Evangelia E, and Papageorgiou, Eleni

Subjects
CRYSTALLINE lens, COVID-19 pandemic, CILIARY body, COVID-19, RESPIRATORY infections, EXFOLIATION syndrome, IRIDOCYCLITIS
Abstract

This article discusses a rare condition called Bilateral Acute Iris Transillumination (BAIT) syndrome, which is characterized by depigmentation of the iris, photophobia, conjunctival hyperemia, and pain. The majority of patients with BAIT report a previous respiratory illness treated with systemic antibiotics, particularly moxifloxacin. This case report describes a middle-aged woman who developed BAIT after a COVID-19 infection and oral moxifloxacin intake. The exact cause of BAIT is unclear, but it has been associated with viral illnesses, antibiotic use, and autoimmune hypersensitivity. Treatment typically involves corticosteroids and cycloplegic agents, and patients should be monitored for increased intraocular pressure. [Extracted from the article]

Published
2024
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9. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Author

Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N, Branham, Kari E, Zipprer, David, Chakarova, Christina F, Sergeev, Yuri V, Campos, Maria M, Othman, Mohammad, Friedman, James S, Maminishkis, Arvydas, Waseem, Naushin H, Brooks, Matthew, Rajasimha, Harsha K, Edwards, Albert O, Lotery, Andrew, Klein, Barbara E, Truitt, Barbara J, Li, Bingshan, Schaumberg, Debra A, Morgan, Denise J, Morrison, Margaux A, Souied, Eric, Tsironi, Evangelia E, Grassmann, Felix, Fishman, Gerald A, Silvestri, Giuliana, Scholl, Hendrik PN, Kim, Ivana K, Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E, Merriam, John C, Park, Kyu Hyung, Olson, Lana M, Farrer, Lindsay A, Johnson, Matthew P, Peachey, Neal S, Lathrop, Mark, Baron, Robert V, Igo, Robert P, Klein, Ronald, Hagstrom, Stephanie A, Kamatani, Yoichiro, Martin, Tammy M, Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J, Chan, Chi-Chao, Pericak-Vance, Margaret A, Jacobson, Samuel G, Gorin, Michael B, Klein, Michael L, Allikmets, Rando, Iyengar, Sudha K, Weber, Bernhard H, Haines, Jonathan L, Léveillard, Thierry, Deangelis, Margaret M, Stambolian, Dwight, Weeks, Daniel E, Bhattacharya, Shomi S, Chew, Emily Y, Heckenlively, John R, Abecasis, Gonçalo R, and Swaroop, Anand

Subjects
Eye Disease and Disorders of Vision, Human Genome, Neurodegenerative, Genetics, Clinical Research, Macular Degeneration, Aging, 2.1 Biological and endogenous factors, Aetiology, Eye, Adult, Aged, Amino Acid Sequence, Bruch Membrane, DNA Mutational Analysis, Exome, Extracellular Matrix, Fibrillin-2, Fibrillins, Genetic Association Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Meta-Analysis as Topic, Microfilament Proteins, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, Protein Stability, Retina, Sequence Alignment, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch's membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; P-value = 3.79 × 10(-5)). Thus, it appears that rare and common variants in a single gene--FBN2--can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch's membrane in maintaining blood-retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.

Published
2014

10. Interleukin Variants Are Associated with the Development and Progression of IgA Nephropathy: A Candidate-Gene Association Study and Meta-Analysis

Author

Chronopoulou, Ioanna, primary, Tziastoudi, Maria, additional, Pissas, Georgios, additional, Dardiotis, Efthimios, additional, Dardioti, Maria, additional, Golfinopoulos, Spyridon, additional, Filippidis, Georgios, additional, Mertens, Peter R., additional, Tsironi, Evangelia E., additional, Liakopoulos, Vassilios, additional, Eleftheriadis, Theodoros, additional, and Stefanidis, Ioannis, additional

Published
2023
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18. Visual disorders and driving ability in persons with dementia: A mini review

Author

Papageorgiou, Eleni, Tsirelis, Daniil, Lazari, Katerina, Siokas, Vasileios, Dardiotis, Efthimios, and Tsironi, Evangelia E.

Subjects
Behavioral Neuroscience, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Neurology, Biological Psychiatry
Abstract

BackgroundImpaired driving ability in patients with Alzheimer’s disease (AD) is associated with a decline in cognitive processes and a deterioration of their basic sensory visual functions. Although a variety of ocular abnormalities have been described in patients with AD, little is known about the impact of those visual disorders on their driving performance.AimAim of this mini-review is to provide an update on the driving ability of patients with dementia and summarize the primary visual disorders affecting their driving behavior.MethodsDatabases were screened for studies investigating dementia, associated visual abnormalities and driving ability.ResultsThere is consistent evidence that dementia affects driving ability. Patients with dementia present with a variety of visual disorders, such as visual acuity reduction, visual field defects, impaired contrast sensitivity, decline in color vision and age-related pathological changes, that may have a negative impact on their driving ability. However, there is a paucity in studies describing the impact of oculovisual decline on the driving ability of AD subjects. A bidirectional association between cognitive and visual impairment (VI) has been described.ConclusionGiven the bidirectional association between VI and dementia, vision screening and cognitive assessment of the older driver should aim to identify at-risk individuals and employ timely strategies for treatment of both cognitive and ocular problems. Future studies should characterize the basic visual sensory status of AD patients participating in driving studies, and investigate the impact of vision abnormalities on their driving performance.

Published
2022

20. Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration

Author

Morrison Margaux A, Silveira Alexandra C, Huynh Nancy, Jun Gyungah, Smith Silvia E, Zacharaki Fani, Sato Hajime, Loomis Stephanie, Andreoli Michael T, Adams Scott M, Radeke Monte J, Jelcick Austin S, Yuan Yang, Tsiloulis Aristoteles N, Chatzoulis Dimitrios Z, Silvestri Giuliana, Kotoula Maria G, Tsironi Evangelia E, Hollis Bruce W, Chen Rui, Haider Neena B, Miller Joan W, Farrer Lindsay A, Hageman Gregory S, Kim Ivana K, Schaumberg Debra A, and DeAngelis Margaret M

Subjects
vitamin D, age-related macular degeneration, Medicine, Genetics, QH426-470
Abstract

Abstract Vitamin D has been shown to have anti-angiogenic properties and to play a protective role in several types of cancer, including breast, prostate and cutaneous melanoma. Similarly, vitamin D levels have been shown to be protective for risk of a number of conditions, including cardiovascular disease and chronic kidney disease, as well as numerous autoimmune disorders such as multiple sclerosis, inflammatory bowel diseases and type 1 diabetes mellitus. A study performed by Parekh et al. was the first to suggest a role for vitamin D in age-related macular degeneration (AMD) and showed a correlation between reduced serum vitamin D levels and risk for early AMD. Based on this study and the protective role of vitamin D in diseases with similar pathophysiology to AMD, we examined the role of vitamin D in a family-based cohort of 481 sibling pairs. Using extremely phenotypically discordant sibling pairs, initially we evaluated the association of neovascular AMD and vitamin D/sunlight-related epidemiological factors. After controlling for established AMD risk factors, including polymorphisms of the genes encoding complement factor H (CFH) and age-related maculopathy susceptibility 2/HtrA serine peptidase (ARMS2/HTRA1), and smoking history, we found that ultraviolet irradiance was protective for the development of neovascular AMD (p = 0.001). Although evaluation of serum vitamin D levels (25-hydroxyvitamin D [25(OH)D]) was higher in unaffected individuals than in their affected siblings, this finding did not reach statistical significance. Based on the relationship between ultraviolet irradiance and vitamin D production, we employed a candidate gene approach for evaluating common variation in key vitamin D pathway genes (the genes encoding the vitamin D receptor [VDR]; cytochrome P450, family 27, subfamily B, polypeptide 1 [CYP27B1]; cytochrome P450, family 24, subfamily A, polypeptide 1 [CYP24A1]; and CYP27A1) in this same family-based cohort. Initial findings were then validated and replicated in the extended family cohort, an unrelated case-control cohort from central Greece and a prospective nested case-control population from the Nurse's Health Study and Health Professionals Follow-Up Studies, which included patients with all subtypes of AMD for a total of 2,528 individuals. Single point variants in CYP24A1 (the gene encoding the catabolising enzyme of the vitamin D pathway) were demonstrated to influence AMD risk after controlling for smoking history, sex and age in all populations, both separately and, more importantly, in a meta-analysis. This is the first report demonstrating a genetic association between vitamin D metabolism and AMD risk. These findings were also supplemented with expression data from human donor eyes and human retinal cell lines. These data not only extend previous biological studies in the AMD field, but further emphasise common antecedents between several disorders with an inflammatory/immunogenic component such as cardiovascular disease, cancer and AMD.

Published
2011
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23. BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm

Author

Siokas, Vasileios, Kardaras, Dimitrios, Aloizou, Athina-Maria, Asproudis, Ioannis, Boboridis, Konstadinos G., Papageorgiou, Eleni, Hadjigeorgiou, Georgios M., Tsironi, Evangelia E., Dardiotis, Efthimios, Hadjigeorgiou, Georgios M. [0000-0001-5386-4273], Siokas, Vasileios [0000-0002-8664-5824], Dardiotis, Efthimios [0000-0003-2957-641X], Aloizou, Athina-Maria [0000-0001-9354-774X], and Boboridis, Konstadinos G. [0000-0002-0471-0371]

Subjects
Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Genotype, Blepharospasm, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, fluids and secretions, 0302 clinical medicine, stomatognathic system, Risk Factors, Neurotrophic factors, Internal medicine, medicine, Genetic predisposition, Humans, SNP, Genetic Predisposition to Disease, Allele, Alleles, Aged, Comparative Genomic Hybridization, Models, Genetic, business.industry, Brain-Derived Neurotrophic Factor, Odds ratio, Middle Aged, Confidence interval, 030104 developmental biology, Neurology, Case-Control Studies, Molecular Medicine, Female, medicine.symptom, business, rs6265, 030217 neurology & neurosurgery
Abstract

A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP was evaluated. 206 patients with BSP and 206 healthy controls were recruited and genotyped for the rs6265. We also performed a meta-analysis, by pooling our results with those from previous studies. A significant effect of rs6265 on the risk of BSP was found in the dominant model of inheritance [odds ratio (OR) (95% confidence interval (CI) 1.52 (1.01-2.29), p = 0.044]. Mutational load analysis of rs6265 in the risk of BSP using the ORG revealed that higher load of the "A" allele of rs6265 denotes higher probability of a subject to develop BSP (ORG 1.48 95% CI 1.00-2.19). Finally, pooled results from the meta-analysis revealed that the rs6265 is associated with an increased risk of BSP in the dominant model [OR 1.26 95% CI 1.02-1.55, pz = 0.03]. Also, higher load of the "A" allele of rs6265 denotes higher probability of a subject to develop BSP (ORG 1.26 95% CI 1.04-1.53). The present study provides additional evidence to the existing knowledge concerning the contribution of the rs6265 BDNF on the risk of developing BSP. While the pathophysiology and genetic susceptibility in BSP and focal dystonia are only partially understood, it seems that BDNF and rs6265 may constitute one essential risk factor that is heavily involved. 21 1 68 74

Published
2018

25. sj-pdf-1-ejo-10.1177_1120672120924612 - Supplemental material for Optical coherence tomography angiography reveals vascular alterations in pediatric commotio retinae

Author

Papageorgiou, Eleni, Voutsas, Nikolaos, Kotoula, Maria, Dastiridou, Anna, Tsironi, Evangelia E, and Androudi, Sofia

Subjects
Medicine
Abstract

Supplemental material, sj-pdf-1-ejo-10.1177_1120672120924612 for Optical coherence tomography angiography reveals vascular alterations in pediatric commotio retinae by Eleni Papageorgiou, Nikolaos Voutsas, Maria Kotoula, Anna Dastiridou, Evangelia E Tsironi and Sofia Androudi in European Journal of Ophthalmology

Published
2020
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33. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Author

Waksmunski, Andrea R., Grunin, Michelle, Kinzy, Tyler G., Igo, Robert P., Jr., Haines, Jonathan L., Bailey, Jessica N. Cooke, Fritsche, Lars G., Igl, Wilmar, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad, I, Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas, V, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke, I, Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R., Heid, Iris M., Waksmunski, Andrea R., Grunin, Michelle, Kinzy, Tyler G., Igo, Robert P., Jr., Haines, Jonathan L., Bailey, Jessica N. Cooke, Fritsche, Lars G., Igl, Wilmar, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad, I, Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas, V, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke, I, Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R., and Heid, Iris M.

Abstract

PURPOSE. Age-related macular degeneration (AMD) is the worldwide leading cause of blindness among the elderly. Although genome-wide association studies (GWAS) have identified AMD risk variants, their roles in disease etiology are not well-characterized, and they only explain a portion of AMD heritability. METHODS. We performed pathway analyses using summary statistics from the International AMD Genomics Consortium's 2016 GWAS and multiple pathway databases to identify biological pathways wherein genetic association signals for AMD may be aggregating. We determined which genes contributed most to significant pathway signals across the databases. We characterized these genes by constructing protein-protein interaction networks and performing motif analysis. RESULTS. We determined that eight genes (C2, C3, LIPC, MICA, NOTCH4, PLCG2, PPARA, and RAD51B) drive'' the statistical signals observed across pathways curated in the Kyoto Encyclopedia of Genes and Genomes (KEGG), Reactome, and Gene Ontology (GO) databases. We further refined our definition of statistical driver gene to identify PLCG2 as a candidate gene for AMD due to its significant gene-level signals (P < 0.0001) across KEGG, Reactome, GO, and NetPath pathways. CONCLUSIONS. We performed pathway analyses on the largest available collection of advanced AMD cases and controls in the world. Eight genes strongly contributed to significant pathways from the three larger databases, and one gene (PLCG2) was central to significant pathways from all four databases. This is, to our knowledge, the first study to identify PLCG2 as a candidate gene for AMD based solely on genetic burden. Our findings reinforce the utility of integrating in silico genetic and biological pathway data to investigate the genetic architecture of AMD.

Published
2019

35. Perimetric and retinal nerve fiber layer findings in patients with Parkinson’s disease

Author

Tsironi Evangelia E, Dastiridou Anna, Katsanos Andreas, Dardiotis Efthymios, Veliki Stella, Patramani Gianna, Zacharaki Fani, Ralli Stella, and Hadjigeorgiou Georgios M

Subjects
Visual loss, Visual fields, Parkinson's disease, Retina, Visual processing, Ophthalmology, RE1-994
Abstract

Abstract Background Visual dysfunction is common in Parkinson’s disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD. Methods PD patients and controls were recruited and underwent VF testing with static automated perimetry and RNFL examination with optical coherence tomography (OCT). Cognitive performance using Mini Mental State Examination (MMSE), PD staging using modified Hoehn and Yahr (H-Y) scale and duration of the disease was recorded in PD patients. Results One randomly selected eye from each of 24 patients and 24 age-matched controls was included. OCT RNFL thickness analysis revealed no difference in the inferior, superior, nasal or temporal sectors between the groups. The average peripapillary RNFL was also similar in the two groups. However, perimetric indices of generalized sensitivity loss (mean deviation) and localized scotomas (pattern standard deviation) were worse in patients with PD compared to controls (p Conclusion PD patients may demonstrate glaucomatous-like perimetric defects even in the absence of decreased RNFL thickness.

Published
2012
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36. European ST80 community-associated methicillin-resistant Staphylococcus aureus orbital cellulitis in a neonate

Author

Tsironi Evangelia E, Zacharaki Fani, Grivea Ioanna N, Tachmitzi Sophia V, Michoula Aspasia N, Vlychou Marianna, Petinaki Efthimia, and Syrogiannopoulos George A

Subjects
Neonatal orbital cellulitis, Methicillin-resistant, Staphylococcus aureus, Daptomycin, Ophthalmology, RE1-994
Abstract

Abstract Background Methicillin-resistant Staphylococcus aureus is a serious cause of morbidity and mortality in hospital environment, but also, lately, in the community. This case report is, to our knowledge, the first detailed description of a community-associated methicillin-resistant S. aureus ST80 orbital cellulitis in a previously healthy neonate. Possible predisposing factors of microbial acquisition and treatment selection are also discussed. Case presentation A 28-day-old Caucasian boy was referred to our hospital with the diagnosis of right orbital cellulitis. His symptoms included right eye proptosis, periocular edema and redness. Empirical therapy of intravenous daptomycin, rifampin and ceftriaxone was initiated. The culture of pus yielded a methicillin-resistant S. aureus isolate and the molecular analysis revealed that it was a Panton-Valentine leukocidine-positive ST80 strain. The combination antimicrobial therapy was continued for 42days and the infection was successfully controlled. Conclusions Clinicians should be aware that young infants, even without any predisposing condition, are susceptible to orbital cellulitis caused by community-associated methicillin-resistant S. aureus. Prompt initiation of the appropriate empirical therapy, according to the local epidemiology, should successfully address the infection, preventing ocular and systemic complications.

Published
2012
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41. Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

Author

Tsironi, Evangelia E., Pefkianaki, Maria, Tsezou, Aspasia, Kotoula, Maria G., Dardiotis, Efthimios, Almpanidou, Pavlina, Papathanasiou, Afroditi A., Rodopoulou, Paraskevi, Chatzoulis, Dimitrios Z., and Hadjigeorgiou, Georgios M.

Subjects
Male, Heterozygote, Models, Genetic, Genes, Recessive, Glaucoma, Exfoliation Syndrome, Polymorphism, Single Nucleotide, eye diseases, Gene Frequency, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Matrix Metalloproteinase 3, Matrix Metalloproteinase 1, Alleles, Research Article, Aged, Genes, Dominant
Abstract

Purpose To investigate possible genetic associations of matrix metalloproteinase-1 (MMP1) and MMP3 gene polymorphisms with exfoliation syndrome (XFS) with (XFS/+G) and without (XFS/-G) glaucoma in a cohort of Greek patients. Methods A total of 182 unrelated Greek patients with XFS, including 92 patients with XFS/+G, and 214 unrelated age- and gender-matched controls were enrolled in the study. MMP1 -1607 1G/2G (rs1799750) and MMP3 -1171 5A/6A (rs3025058) polymorphisms were determined using standard PCR/restriction fragment length polymorphism methods. Differences in allele and genotype distributions were analyzed using logistic regression. Results The distribution of genotypes and alleles in MMP1 and MMP3 polymorphisms was not significantly different between cases with exfoliation syndrome, with or without glaucoma, and controls. However, the allele contrast for the MMP1 variant showed a trend for a significant association with XFS/-G (Odds Ratio=1.47 [1.03–2.10]), since after correction for multiple comparisons, this association was no longer statistically significant. Conclusions Our study provided some evidence of a possible role of the MMP1 variant in the development of exfoliation syndrome in Greek patients.

Published
2009

43. Plasminogen Activator Inhibitor Type-1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetes Mellitus Type 2 and Diabetic Retinopathy

Author

Siokas, Vasileios, primary, Dardiotis, Efthimios, additional, Sokolakis, Thomas, additional, Kotoula, Maria, additional, Tachmitzi, Sophia V., additional, Chatzoulis, Dimitrios Z., additional, Almpanidou, Pavlina, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, and Tsironi, Evangelia E., additional

Published
2017
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45. SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy.

Author

Siokas, Vasileios, Fotiadou, anatoli, Dardiotis, Efthimios, Kotoula, Maria G., Tachmitzi, Sophia V., Chatzoulis, Dimitrios Z., Zintzaras, Elias, Stefanidis, Ioannis, and Tsironi, Evangelia E.

Subjects
TYPE 2 diabetes, DIABETIC retinopathy, DIABETIC nephropathies, GLUCOSE transporters, GENETIC load
Abstract

Backround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose transporter (GLUT1), on DR and DN remain controversial. Objective: Examination of the influence of tag SLC2A1 single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). Methods: A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 SLC2A1 tag SNPs. SNPs and haplotypes were tested for associations with microvascular diabetes' complications. Results: rs3768029 TT genotype was associated with a lower risk of DR + DN, compared to the CC wild-type (p = 0.0024). Moreover, CT and TT rs841847 genotypes were associated with a higher risk of DR + DN compared to the CC genotype (p = 0.0028). A common haplotype (GGCCCGCATCAAT) was associated with an increased risk of DR, DN, DR ± DN, and DR + DN phenotypes. Mutational loads of rs3768029, rs3729548, rs841853, and rs841847 were found to influence the development of microvascular complications during the T2DM course. Conclusions: This study provides evidence that SLC2A1 gene variants might be implicated in the development of T2DM microvascular complications. [ABSTRACT FROM AUTHOR]

Published
2019
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46. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G., Igl, Wilmar, Bailey, Jessica N. Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Starke, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Main, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Igo, Robert P., Jr., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R., Heid, Iris M., Fritsche, Lars G., Igl, Wilmar, Bailey, Jessica N. Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Starke, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Main, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Igo, Robert P., Jr., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R., and Heid, Iris M.

Abstract

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 x 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 x 10(-10)). Very rare coding variants (frequency <0.1 %) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

Published
2016

47. Clinical and imaging evaluation of the response to intravenous steroids in patients with Graves’ orbitopathy and analysis on who requires additional therapy

Author

Tsirouki,Theodora, Bargiota,Alexandra, Tigas,Stelios, Vasileiou,Agathi, Kapsalaki,Eftichia, Giotaki,Zoe, Asproudis,Ioannis, Tsatsoulis,Agathokles, Koukoulis,Georgios, Tsironi,Evangelia E, Tsirouki,Theodora, Bargiota,Alexandra, Tigas,Stelios, Vasileiou,Agathi, Kapsalaki,Eftichia, Giotaki,Zoe, Asproudis,Ioannis, Tsatsoulis,Agathokles, Koukoulis,Georgios, and Tsironi,Evangelia E

Abstract

Theodora Tsirouki,1 Alexandra Bargiota,2 Stelios Tigas,3 Agathi Vasileiou,2 Eftichia Kapsalaki,4 Zoe Giotaki,3 Ioannis Asproudis,5 Agathokles Tsatsoulis,3 Georgios Koukoulis,2 Evangelia E Tsironi1 1Department of Ophthalmology, University Hospital of Larissa, Larissa, 2Department of Endocrinology, University Hospital of Larissa, Larissa, 3Department of Endocrinology, University Hospital of Ioannina, Ioannina, 4Department of Diagnostic Radiology, University Hospital of Larissa, Larissa, 5Department of Ophthalmology, University Hospital of Ioannina, Ioannina, Greece Objective: The aim of this study was to evaluate the safety and efficacy of an individualized steroid regimen in patients with moderate-to-severe Graves’ orbitopathy (GO) by monitoring clinical and imaging parameters. Methods: In total, 47 patients with active, moderate-to-severe GO were enrolled in this study. All the patients received the proposed treatment regimen by European Group on GO of 4.5 g of intravenous (IV) methylprednisolone for 12 weeks. At the end of the IV treatment, patients with persistent active GO (Group 1) who were assessed by clinical examination and orbital imaging with short tau inversion recovery-sequence magnetic resonance imaging (STIR MRI) received additional treatment with oral prednisolone, and those with inactive GO (Group 2) received no further treatment. Results: Of the 42 patients who completed the study, 22 (52.4%) patients formed Group 1 and 20 (47.6%) patients Group 2. At the 12th week, the overall response to IV treatment was 76.2%, and clinical activity score (CAS) improvement was 69%. At the 24th week, the overall response was 92.8%, and CAS improvement was 97.6%, without statistically significant difference in CAS and total eye score between these two groups (P=0.157 and P=0.856, respectively). Ophthalmic manifestations were improved, being absent or minimal in 78.6% of patients at the 24th week follow-up. Recurrence of disease activity occurred in

Published
2016

48. Clinical and imaging evaluation of the response to intravenous steroids in patients with Graves&rsquo; orbitopathy and analysis on who requires additional therapy

Author

Tsirouki, Theodora, primary, Bargiota, Alexandra, additional, Tigas, Stelios, additional, Vasileiou, Agathi, additional, Kapsalaki, Eftichia, additional, Giotaki, Zoe, additional, Asproudis, Ioannis, additional, Tsatsoulis, Agathokles, additional, Koukoulis, Georgios, additional, and Tsironi, Evangelia E., additional

Published
2016
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49. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G, primary, Igl, Wilmar, additional, Bailey, Jessica N Cooke, additional, Grassmann, Felix, additional, Sengupta, Sebanti, additional, Bragg-Gresham, Jennifer L, additional, Burdon, Kathryn P, additional, Hebbring, Scott J, additional, Wen, Cindy, additional, Gorski, Mathias, additional, Kim, Ivana K, additional, Cho, David, additional, Zack, Donald, additional, Souied, Eric, additional, Scholl, Hendrik P N, additional, Bala, Elisa, additional, Lee, Kristine E, additional, Hunter, David J, additional, Sardell, Rebecca J, additional, Mitchell, Paul, additional, Merriam, Joanna E, additional, Cipriani, Valentina, additional, Hoffman, Joshua D, additional, Schick, Tina, additional, Lechanteur, Yara T E, additional, Guymer, Robyn H, additional, Johnson, Matthew P, additional, Jiang, Yingda, additional, Stanton, Chloe M, additional, Buitendijk, Gabriëlle H S, additional, Zhan, Xiaowei, additional, Kwong, Alan M, additional, Boleda, Alexis, additional, Brooks, Matthew, additional, Gieser, Linn, additional, Ratnapriya, Rinki, additional, Branham, Kari E, additional, Foerster, Johanna R, additional, Heckenlively, John R, additional, Othman, Mohammad I, additional, Vote, Brendan J, additional, Liang, Helena Hai, additional, Souzeau, Emmanuelle, additional, McAllister, Ian L, additional, Isaacs, Timothy, additional, Hall, Janette, additional, Lake, Stewart, additional, Mackey, David A, additional, Constable, Ian J, additional, Craig, Jamie E, additional, Kitchner, Terrie E, additional, Yang, Zhenglin, additional, Su, Zhiguang, additional, Luo, Hongrong, additional, Chen, Daniel, additional, Ouyang, Hong, additional, Flagg, Ken, additional, Lin, Danni, additional, Mao, Guanping, additional, Ferreyra, Henry, additional, Stark, Klaus, additional, von Strachwitz, Claudia N, additional, Wolf, Armin, additional, Brandl, Caroline, additional, Rudolph, Guenther, additional, Olden, Matthias, additional, Morrison, Margaux A, additional, Morgan, Denise J, additional, Schu, Matthew, additional, Ahn, Jeeyun, additional, Silvestri, Giuliana, additional, Tsironi, Evangelia E, additional, Park, Kyu Hyung, additional, Farrer, Lindsay A, additional, Orlin, Anton, additional, Brucker, Alexander, additional, Li, Mingyao, additional, Curcio, Christine A, additional, Mohand-Saïd, Saddek, additional, Sahel, José-Alain, additional, Audo, Isabelle, additional, Benchaboune, Mustapha, additional, Cree, Angela J, additional, Rennie, Christina A, additional, Goverdhan, Srinivas V, additional, Grunin, Michelle, additional, Hagbi-Levi, Shira, additional, Campochiaro, Peter, additional, Katsanis, Nicholas, additional, Holz, Frank G, additional, Blond, Frédéric, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Igo, Robert P, additional, Truitt, Barbara, additional, Peachey, Neal S, additional, Meuer, Stacy M, additional, Myers, Chelsea E, additional, Moore, Emily L, additional, Klein, Ronald, additional, Hauser, Michael A, additional, Postel, Eric A, additional, Courtenay, Monique D, additional, Schwartz, Stephen G, additional, Kovach, Jaclyn L, additional, Scott, William K, additional, Liew, Gerald, additional, Tan, Ava G, additional, Gopinath, Bamini, additional, Merriam, John C, additional, Smith, R Theodore, additional, Khan, Jane C, additional, Shahid, Humma, additional, Moore, Anthony T, additional, McGrath, J Allie, additional, Laux, Reneé, additional, Brantley, Milam A, additional, Agarwal, Anita, additional, Ersoy, Lebriz, additional, Caramoy, Albert, additional, Langmann, Thomas, additional, Saksens, Nicole T M, additional, de Jong, Eiko K, additional, Hoyng, Carel B, additional, Cain, Melinda S, additional, Richardson, Andrea J, additional, Martin, Tammy M, additional, Blangero, John, additional, Weeks, Daniel E, additional, Dhillon, Bal, additional, van Duijn, Cornelia M, additional, Doheny, Kimberly F, additional, Romm, Jane, additional, Klaver, Caroline C W, additional, Hayward, Caroline, additional, Gorin, Michael B, additional, Klein, Michael L, additional, Baird, Paul N, additional, den Hollander, Anneke I, additional, Fauser, Sascha, additional, Yates, John R W, additional, Allikmets, Rando, additional, Wang, Jie Jin, additional, Schaumberg, Debra A, additional, Klein, Barbara E K, additional, Hagstrom, Stephanie A, additional, Chowers, Itay, additional, Lotery, Andrew J, additional, Léveillard, Thierry, additional, Zhang, Kang, additional, Brilliant, Murray H, additional, Hewitt, Alex W, additional, Swaroop, Anand, additional, Chew, Emily Y, additional, Pericak-Vance, Margaret A, additional, DeAngelis, Margaret, additional, Stambolian, Dwight, additional, Haines, Jonathan L, additional, Iyengar, Sudha K, additional, Weber, Bernhard H F, additional, Abecasis, Gonçalo R, additional, and Heid, Iris M, additional

Published
2015
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50. Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

Author

Morrison, Margaux A., primary, Magalhaes, Tiago R., additional, Ramke, Jacqueline, additional, Smith, Silvia E., additional, Ennis, Sean, additional, Simpson, Claire L., additional, Portas, Laura, additional, Murgia, Federico, additional, Ahn, Jeeyun, additional, Dardenne, Caitlin, additional, Mayne, Katie, additional, Robinson, Rosann, additional, Morgan, Denise J., additional, Brian, Garry, additional, Lee, Lucy, additional, Woo, Se J., additional, Zacharaki, Fani, additional, Tsironi, Evangelia E., additional, Miller, Joan W., additional, Kim, Ivana K., additional, Park, Kyu H., additional, Bailey-Wilson, Joan E., additional, Farrer, Lindsay A., additional, Stambolian, Dwight, additional, and DeAngelis, Margaret M., additional

Published
2015
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