Publications by authors named "Valentina Cipriani"

37Publications

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

Eur J Hum Genet 2020 Sep 15. Epub 2020 Sep 15.

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.

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http://dx.doi.org/10.1038/s41431-020-00720-wDOI Listing
September 2020

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

Cont Lens Anterior Eye 2019 12 5;42(6):658-661. Epub 2019 Jul 5.

School of Optometry and Vision Science, University of NSW, Sydney 2052, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S13670484193003
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http://dx.doi.org/10.1016/j.clae.2019.06.007DOI Listing
December 2019

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

Nucleic Acids Res 2019 01;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

JAMA Ophthalmol 2017 09;135(9):909-916

Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.2191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710541PMC
September 2017

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Ophthalmology 2017 07 31;124(7):1004-1013. Epub 2017 Mar 31.

Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, London, United Kingdom; Ophthalmology Department, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697PMC
July 2017

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

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

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust.

Br J Ophthalmol 2015 Sep 25;99(9):1155-7. Epub 2015 Jun 25.

UCL Comprehensive Clinical Trials Unit, University College London, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2015-306784DOI Listing
September 2015

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Ophthalmology 2014 Feb 5;121(2):580-7. Epub 2013 Nov 5.

UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.09.017DOI Listing
February 2014

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels.

Int J Biochem Cell Biol 2012 Jun 22;44(6):876-85. Epub 2012 Feb 22.

Department of Health Sciences and Interdisciplinary Research Centre on Autoimmune Diseases (IRCAD), Università del Piemonte Orientale A. Avogadro, Via Solaroli 17, 28100 Novara, Italy.

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http://dx.doi.org/10.1016/j.biocel.2012.02.011DOI Listing
June 2012

Proteome profile and biological activity of caprine, bovine and human milk fat globules.

Mol Biosyst 2012 Apr 21;8(4):967-74. Epub 2011 Dec 21.

Department of Environmental and Life Sciences, University of Piemonte Orientale, Viale T. Michel, 11, 15121 Alessandria, Italy.

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http://dx.doi.org/10.1039/c2mb05400kDOI Listing
April 2012

Genetic variation in complement regulators and susceptibility to age-related macular degeneration.

Immunobiology 2012 Feb 5;217(2):158-61. Epub 2011 Oct 5.

Institute of Ophthalmology, Department of Genetics, University College London, 11-43 Bath Street, London, UK.

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http://dx.doi.org/10.1016/j.imbio.2011.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657157PMC
February 2012

Age-related macular degeneration: the importance of family history as a risk factor.

Br J Ophthalmol 2012 Mar 23;96(3):427-31. Epub 2011 Aug 23.

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2011-300193DOI Listing
March 2012

Familial aggregation of early-onset myocardial infarction.

Eur J Intern Med 2010 Dec 25;21(6):511-5. Epub 2010 Aug 25.

Department of Applied Health Sciences, Division of Epidemiology and Medical Statistics, University of Pavia, via Bassi 21, 27100, Pavia, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S095362051000157
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http://dx.doi.org/10.1016/j.ejim.2010.07.017DOI Listing
December 2010

Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.

J Tissue Eng Regen Med 2009 Oct;3(7):531-8

Department of Environment and Life Sciences, University of Piemonte Orientale, Alessandria, Italy.

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http://dx.doi.org/10.1002/term.195DOI Listing
October 2009

Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study.

J Neuroimaging 2009 Apr 23;19(2):191-3. Epub 2008 Dec 23.

Department of Neuroradiology, S. Andrea Hospital, University "La Sapienza", Rome, Italy.

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http://dx.doi.org/10.1111/j.1552-6569.2008.00258.xDOI Listing
April 2009

Autobiography as a tool for self-construction: a study of patients with mental disorders.

J Nerv Ment Dis 2008 Jul;196(7):531-7

Department of Psychology, University of Florence, Via S. Nicolò, 93, Firenze, 50125, Italy.

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http://dx.doi.org/10.1097/NMD.0b013e31817cf70fDOI Listing
July 2008

Neuroradiology and headaches.

J Headache Pain 2006 Dec 10;7(6):422-32. Epub 2006 Dec 10.

Department of Neuroradiology, La Sapienza University of Rome Sant'Andrea Hospital, Via di Grottarossa 1035, 00189, Rome, Italy.

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http://dx.doi.org/10.1007/s10194-006-0347-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3452224PMC
December 2006

Lipid peroxidation contributes to immune reactions associated with alcoholic liver disease.

Free Radic Biol Med 2002 Jan;32(1):38-45

Department of Medical Sciences, Amedeo Avogadro University of East Piedmont, Via Solaroli 17, 28100 Novara, Italy.

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http://dx.doi.org/10.1016/s0891-5849(01)00757-2DOI Listing
January 2002