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Atypical Endometrial Hyperplasia, Low-grade: "Much ADO About Nothing".

Emanuela D'Angelo, Iñigo Espinosa, Valentina Cipriani, Justyna Szafranska, Mattia Barbareschi, Jaime Prat,

Atypical endometrial hyperplasia (AEH) is considered a precursor of endometrioid carcinoma. The 2020 World Health Organization (WHO) classification divides endometrial hyperplasia into 2 categories: hyperplasia without atypia and atypical hyperplasia/endometrioid intraepithelial neoplasia (EIN); however, this classification does not consider the degree of nuclear atypia. We graded nuclear atypia for estimating ... Read more >>

Am J Surg Pathol (The American journal of surgical pathology)
[2021, 45(7):988-996]

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Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.

J Willem L Tideman, Olavi Pärssinen, Annechien E G Haarman, Anthony P Khawaja, Juho Wedenoja, Katie M Williams, Ginevra Biino, Xiaohu Ding, Mika Kähönen, Terho Lehtimäki, Olli T Raitakari, Ching-Yu Cheng, Jost B Jonas, Terri L Young, Joan E Bailey-Wilson, Jugnoo Rahi, Cathy Williams, Mingguang He, David A Mackey, Jeremy A Guggenheim, ,

<h4>Importance</h4>Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for ... Read more >>

JAMA Ophthalmol (JAMA ophthalmology)
[2021, :]

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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W Hewitt, Ayellet V Segrè, John M Rouhana, Andrew R Hamel, Robert P Igo, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N Cooke Bailey, Pieter W M Bonnemaijer, Adriana Iglesias, Owen M Siggs, Terri L Young, Veronique Vitart, Alberta A H J Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B Melles, K Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, , , , , , , , Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K Lupton, Nicholas G Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J Foster, Peng T Khaw, James E Morgan, Nicholas G Strouthidis, Peter Kraft, Jae H Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L Haines, Chris Hammond, Louis R Pasquale, Caroline C W Klaver, Michael Hauser, Chiea Chuen Khor, David A Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E Craig, Stuart MacGregor, Janey L Wiggs,

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The ... Read more >>

Nat Commun (Nature communications)
[2021, 12(1):1258]

Cited: 1 time

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Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank: a cross-sectional case-control study.

Euan N Paterson, Chris Cardwell, Thomas J MacGillivray, Emanuele Trucco, Alexander S Doney, Paul Foster, Alexander P Maxwell, Gareth J McKay, ,

<h4>Background</h4>Associations between microvascular variation and chronic kidney disease (CKD) have been reported previously. Non-invasive retinal fundus imaging enables evaluation of the microvascular network and may offer insight to systemic risk associated with CKD.<h4>Methods</h4>Retinal microvascular parameters (fractal dimension [FD] - a measure of the complexity of the vascular network, tortuosity, and ... Read more >>

BMC Nephrol (BMC nephrology)
[2021, 22(1):72]

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, , Jana Vandrovcova, Henry Houlden, Arianna Tucci,

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2020, 28(12):1763-1768]

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R Webster, Anthony T Moore, Peter N Robinson, Julius O B Jacobsen, Damian Smedley,

Next-generation sequencing has revolutionized rare disease diagnostics, but many patients remain without a molecular diagnosis, particularly because many candidate variants usually survive despite strict filtering. Exomiser was launched in 2014 as a Java tool that performs an integrative analysis of patients' sequencing data and their phenotypes encoded with Human Phenotype ... Read more >>

Genes (Basel) (Genes)
[2020, 11(4):]

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Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.

Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E Acar, Carel B Hoyng, Sascha Fauser, Anthony T Moore, John R W Yates, Eiko K de Jong, B Paul Morgan, Anneke I den Hollander, Paul N Bishop, Simon J Clark,

Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determinants of AMD susceptibility, but their molecular consequences remain unclear. Here we demonstrate that FHR-4 plays a prominent role in ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):778]

Cited: 7 times

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A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.

Tobias Strunz, Susette Lauwen, Christina Kiel, , Anneke den Hollander, Bernhard H F Weber,

Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional variants implicating a defined gene in the disease process. We now performed a transcriptome-wide association ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):1584]

Cited: 2 times

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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

Kent A Shefchek, Nomi L Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Matthew Brush, Daniel Keith, Tom Conlin, Nicole Vasilevsky, Xingmin Aaron Zhang, James P Balhoff, Larry Babb, Susan M Bello, Hannah Blau, Yvonne Bradford, Seth Carbon, Leigh Carmody, Lauren E Chan, Valentina Cipriani, Alayne Cuzick, Maria Della Rocca, Nathan Dunn, Shahim Essaid, Petra Fey, Chris Grove, Jean-Phillipe Gourdine, Ada Hamosh, Midori Harris, Ingo Helbig, Maureen Hoatlin, Marcin Joachimiak, Simon Jupp, Kenneth B Lett, Suzanna E Lewis, Craig McNamara, Zoë M Pendlington, Clare Pilgrim, Tim Putman, Vida Ravanmehr, Justin Reese, Erin Riggs, Sofia Robb, Paola Roncaglia, James Seager, Erik Segerdell, Morgan Similuk, Andrea L Storm, Courtney Thaxon, Anne Thessen, Julius O B Jacobsen, Julie A McMurry, Tudor Groza, Sebastian Köhler, Damian Smedley, Peter N Robinson, Christopher J Mungall, Melissa A Haendel, Monica C Munoz-Torres, David Osumi-Sutherland,

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or ... Read more >>

Nucleic Acids Res (Nucleic acids research)
[2020, 48(D1):D704-D715]

Cited: 20 times

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Ophthalmic statistics note 13: method agreement studies in ophthalmology-please don't carry on correlating….

Catey Bunce, Irene M Stratton, Andrew Elders, Gabriela Czanner, Caroline Doré, Nick Freemantle, ,

Br J Ophthalmol (The British journal of ophthalmology)
[2019, 103(9):1201-1203]

Cited: 0 times

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Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis.

Nicole A Carnt, Valentina Cipriani, Fiona J Stapleton, Virginia Calder, Mark D Willcox,

<h4>Purpose</h4>Exploratory analysis to assess the association of single nucleotide polymorphisms (SNPs) in the interleukin (IL) 10 and IL-17 genes with severity of contact lens keratitis.<h4>Methods</h4>This was a retrospective case control study of 88 contact lens keratitis cases (25 severe) and 185 healthy contact lens wearers recruited from studies conducted at ... Read more >>

Cont Lens Anterior Eye (Contact lens & anterior eye : the journal of the British Contact Lens Association)
[2019, 42(6):658-661]

Cited: 2 times

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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Raquel S Silva, Gavin Arno, Valentina Cipriani, Nikolas Pontikos, Sabine Defoort-Dhellemmes, Ambreen Kalhoro, Keren J Carss, F Lucy Raymond, Claire Marie Dhaenens, Hanne Jensen, Thomas Rosenberg, Veronica van Heyningen, Anthony T Moore, Bernard Puech, Andrew R Webster,

The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14-16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. NCMD is a nonprogressive developmental macular dystrophy, in which variants upstream of PRDM13 have been implicated. Whole genome sequencing was performed to interrogate structural ... Read more >>

Hum Mutat (Human mutation)
[2019, 40(5):578-587]

Cited: 1 time

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergerson, Stanley J F Laulederkind, Zafer Yüksel, Sergi Beltran, Alexandra F Freeman, Panagiotis I Sergouniotis, Daniel Durkin, Andrea L Storm, Marc Hanauer, Michael Brudno, Susan M Bello, Murat Sincan, Kayli Rageth, Matthew T Wheeler, Renske Oegema, Halima Lourghi, Maria G Della Rocca, Rachel Thompson, Francisco Castellanos, James Priest, Charlotte Cunningham-Rundles, Ayushi Hegde, Ruth C Lovering, Catherine Hajek, Annie Olry, Luigi Notarangelo, Morgan Similuk, Xingmin A Zhang, David Gómez-Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen Sullivan, Cynthia Smith, Joshua D Milner, Dorothée Leroux, Cornelius F Boerkoel, Amy Klion, Melody C Carter, Tudor Groza, Damian Smedley, Melissa A Haendel, Chris Mungall, Peter N Robinson,

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in ... Read more >>

Nucleic Acids Res (Nucleic acids research)
[2019, 47(D1):D1018-D1027]

Cited: 129 times

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Y chromosome mosaicism is associated with age-related macular degeneration.

Felix Grassmann, Christina Kiel, Anneke I den Hollander, Daniel E Weeks, Andrew Lotery, Valentina Cipriani, Bernhard H F Weber, ,

Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic burden. Y chromosome loss in nucleated blood cells has been implicated in age-related diseases such as Alzheimer disease and was shown to be caused by increasing age, smoking ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2019, 27(1):36-41]

Cited: 10 times

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Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Valentina Cipriani, Raquel S Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R Webster, Anthony T Moore,

Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding variants upstream of PRDM13 (MCDR1) and a duplication including IRX1 (MCDR3) have been identified. However, the underlying ... Read more >>

Sci Rep (Scientific reports)
[2017, 7(1):7512]

Cited: 4 times

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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Nikolas Pontikos, Jing Yu, Ismail Moghul, Lucy Withington, Fiona Blanco-Kelly, Tom Vulliamy, Tsz Lun Ernest Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius O B Jacobsen, Tristan Clark, David S Gregory, Andrea M Nemeth, Stephanie Halford, Chris F Inglehearn, Susan Downes, Graeme C Black, Andrew R Webster, Alison J Hardcastle, , Vincent Plagnol,

<h4>Summary</h4>Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study ... Read more >>

Bioinformatics (Bioinformatics (Oxford, England))
[2017, 33(15):2421-2423]

Cited: 18 times

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Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Felix Grassmann, Christina Kiel, Martina E Zimmermann, Mathias Gorski, Veronika Grassmann, Klaus Stark, , Iris M Heid, Bernhard H F Weber,

<h4>Background</h4>Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, little is known about a genetic overlap between AMD and other complex diseases or disease-relevant traits.<h4>Methods</h4>For each ... Read more >>

Genome Med (Genome medicine)
[2017, 9(1):29]

Cited: 20 times

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Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Arundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, Robert A Sisk, Zubair M Ahmed, Graham E Holder, Valentina Cipriani, Gavin Arno, Andrew R Webster, Robert B Hufnagel, Audina Berrocal, Anthony T Moore,

<h4>Purpose</h4>To describe a novel macular phenotype that is associated with normal visual function.<h4>Design</h4>Retrospective, observational case series.<h4>Participants</h4>Thirty-six affected individuals from 23 unrelated families.<h4>Methods</h4>This was a retrospective study of patients who had a characteristic macular phenotype. Subjects underwent a full ocular examination, electrophysiologic studies, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence ... Read more >>

Ophthalmology (Ophthalmology)
[2017, 124(7):1004-1013]

Cited: 3 times

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Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech,

<h4>Background</h4>Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 ... Read more >>

Ophthalmic Genet (Ophthalmic genetics)
[2017, 38(6):511-519]

Cited: 1 time

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Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Valentina Cipriani, Raquel Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew Webster, Anthony Moore,

Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been assigned by linkage to two loci, MCDR1 on chromosome 6q16 and MCDR3 on chromosome 5p15-p13. Recently, noncoding variants upstream of PRDM13 and a large duplication including IRX1 have been identified. ... Read more >>

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The Human Phenotype Ontology in 2017.

Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Ségolène Aymé, Gareth Baynam, Susan M Bello, Cornelius F Boerkoel, Kym M Boycott, Michael Brudno, Orion J Buske, Patrick F Chinnery, Valentina Cipriani, Laureen E Connell, Hugh J S Dawkins, Laura E DeMare, Andrew D Devereau, Bert B A de Vries, Helen V Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna A Jähn, Roger James, Roland Krause, Stanley J F Laulederkind, Hanns Lochmüller, Gholson J Lyon, Soichi Ogishima, Annie Olry, Willem H Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H Scott, Michael Segal, Panagiotis I Sergouniotis, Richard Sever, Cynthia L Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W M Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O B Jacobsen, Tudor Groza, Damian Smedley, Christopher J Mungall, Melissa Haendel, Peter N Robinson,

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. ... Read more >>

Nucleic Acids Res (Nucleic acids research)
[2017, 45(D1):D865-D876]

Cited: 285 times

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Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Nikolas Pontikos, Jing Yu, Fiona Blanco-Kelly, Tom Vulliamy, Tsz Lun Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius OB Jacobsen, Tristan Clark, David Gregory, Andrea Nemeth, Stephanie Halford, Susan Downes, Graeme Black, Andrew Webster, Alison Hardcastle, Vincent Plagnol,

<h4>Summary</h4> Phenopolis is an open-source web server which provides an intuitive interface to genetic and phenotypic databases. It integrates analysis tools which include variant filtering and gene prioritisation based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in ... Read more >>

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Analysis of copy number variation at DMBT1 and age-related macular degeneration.

Shamik Polley, Valentina Cipriani, Jane C Khan, Humma Shahid, Anthony T Moore, John R W Yates, Edward J Hollox,

<h4>Background</h4>DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variants have been strongly ... Read more >>

BMC Med Genet (BMC medical genetics)
[2016, 17(1):44]

Cited: 1 time

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Ophthalmic statistics note 9: parametric versus non-parametric methods for data analysis.

Simon S Skene, Catey Bunce, Nick Freemantle, Caroline J Doré, ,

Br J Ophthalmol (The British journal of ophthalmology)
[2016, 100(7):877-878]

Cited: 2 times

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Ophthalmic statistics note 8: missing data--exploring the unknown.

Catey Bunce, Ana Quartilho, Nick Freemantle, Caroline J Doré, ,

Br J Ophthalmol (The British journal of ophthalmology)
[2016, 100(3):291-294]

Cited: 1 time

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