Konstantinos Nikopoulos

Konstantinos Nikopoulos

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Konstantinos Nikopoulos

Konstantinos Nikopoulos

Publications by authors named "Konstantinos Nikopoulos"

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17Publications

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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Authors:
Konstantinos Nikopoulos Katarina Cisarova Mathieu Quinodoz Hanna Koskiniemi-Kuendig Noriko Miyake Pietro Farinelli Atta Ur Rehman Muhammad Imran Khan Andrea Prunotto Masato Akiyama Yoichiro Kamatani Chikashi Terao Fuyuki Miya Yasuhiro Ikeda Shinji Ueno Nobuo Fuse Akira Murakami Yuko Wada Hiroko Terasaki Koh-Hei Sonoda Tatsuro Ishibashi Michiaki Kubo Frans P M Cremers Zoltán Kutalik Naomichi Matsumoto Koji M Nishiguchi Toru Nakazawa Carlo Rivolta

Nat Commun 2019 06 28;10(1):2884. Epub 2019 Jun 28.

Unit of Medical Genetics, Department of Computational Biology, University of Lausanne, 1015, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/s41467-019-10746-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599023PMC
June 2019

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Authors:
Virginie G Peter Konstantinos Nikopoulos Mathieu Quinodoz Lotta Granse Pietro Farinelli Andrea Superti-Furga Sten Andréasson Carlo Rivolta

Ophthalmic Genet 2019 04 23;40(2):177-181. Epub 2019 Apr 23.

a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.

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http://dx.doi.org/10.1080/13816810.2019.1605391DOI Listing
April 2019

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Authors:
Sanne K Verbakel Ramon A C van Huet Anneke I den Hollander Maartje J Geerlings Eveline Kersten B Jeroen Klevering Caroline C W Klaver Astrid S Plomp Nieneke L Wesseling Arthur A B Bergen Konstantinos Nikopoulos Carlo Rivolta Yasuhiro Ikeda Koh-Hei Sonoda Yuko Wada Camiel J F Boon Toru Nakazawa Carel B Hoyng Koji M Nishiguchi

Invest Ophthalmol Vis Sci 2019 03;60(4):1192-1203

Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1167/iovs.18-26084DOI Listing
March 2019

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Authors:
Nicola Bedoni Lonneke Haer-Wigman Veronika Vaclavik Viet H Tran Pietro Farinelli Sara Balzano Beryl Royer-Bertrand Mohammed E El-Asrag Olivier Bonny Christos Ikonomidis Yan Litzistorf Konstantinos Nikopoulos Georgia G Yioti Maria I Stefaniotou Martin McKibbin Adam P Booth Jamie M Ellingford Graeme C Black Carmel Toomes Chris F Inglehearn Carel B Hoyng Nathalie Bax Caroline C W Klaver Alberta A Thiadens Fabien Murisier Daniel F Schorderet Manir Ali Frans P M Cremers Sten Andréasson Francis L Munier Carlo Rivolta

Hum Mol Genet 2016 10;25(20):4546-4555

Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddw282DOI Listing
October 2016

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Authors:
Konstantinos Nikopoulos Pietro Farinelli Basilio Giangreco Chrysanthi Tsika Beryl Royer-Bertrand Martial K Mbefo Nicola Bedoni Ulrika Kjellström Ikram El Zaoui Silvio Alessandro Di Gioia Sara Balzano Katarina Cisarova Andrea Messina Sarah Decembrini Sotiris Plainis Styliani V Blazaki Muhammad Imran Khan Shazia Micheal Karsten Boldt Marius Ueffing Alexandre P Moulin Frans P M Cremers Ronald Roepman Yvan Arsenijevic Miltiadis K Tsilimbaris Sten Andréasson Carlo Rivolta

Am J Hum Genet 2016 Sep;99(3):770-776

Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011074PMC
September 2016

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Authors:
Marta Corton Koji M Nishiguchi Almudena Avila-Fernández Konstantinos Nikopoulos Rosa Riveiro-Alvarez Sorina D Tatu Carmen Ayuso Carlo Rivolta

PLoS One 2016 31;11(3):e0153121. Epub 2016 Mar 31.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0153121PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816403PMC
August 2016

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Authors:
Frauke Coppieters Giulia Ascari Katharina Dannhausen Konstantinos Nikopoulos Frank Peelman Marcus Karlstetter Mingchu Xu Cécile Brachet Isabelle Meunier Miltiadis K Tsilimbaris Chrysanthi Tsika Styliani V Blazaki Sarah Vergult Pietro Farinelli Thalia Van Laethem Miriam Bauwens Marieke De Bruyne Rui Chen Thomas Langmann Ruifang Sui Françoise Meire Carlo Rivolta Christian P Hamel Bart P Leroy Elfride De Baere

Am J Hum Genet 2016 Aug;99(2):470-80

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974088PMC
August 2016

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Authors:
Konstantinos Nikopoulos Almudena Avila-Fernandez Marta Corton Maria Isabel Lopez-Molina Raquel Perez-Carro Lara Bontadelli Silvio Alessandro Di Gioia Olga Zurita Blanca Garcia-Sandoval Carlo Rivolta Carmen Ayuso

Sci Rep 2015 Sep 9;5:13902. Epub 2015 Sep 9.

Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz (IIS - FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1038/srep13902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642573PMC
September 2015

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Authors:
Muhammad Arif Nadeem Saqib Konstantinos Nikopoulos Ehsan Ullah Falak Sher Khan Jamila Iqbal Rabia Bibi Afeefa Jarral Sundus Sajid Koji M Nishiguchi Giulia Venturini Muhammad Ansar Carlo Rivolta

Sci Rep 2015 May 6;5:9965. Epub 2015 May 6.

Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/srep09965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421863PMC
May 2015

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Authors:
Marta Corton Koji M Nishiguchi Almudena Avila-Fernández Konstantinos Nikopoulos Rosa Riveiro-Alvarez Sorina D Tatu Carmen Ayuso Carlo Rivolta

PLoS One 2013 14;8(6):e65574. Epub 2013 Jun 14.

Department of Genetics, IIS- Fundacion Jimenez Diaz, CIBERER, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0065574PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683009PMC
January 2014

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Authors:
Rob W J Collin Konstantinos Nikopoulos Margo Dona Christian Gilissen Alexander Hoischen F Nienke Boonstra James A Poulter Hiroyuki Kondo Wolfgang Berger Carmel Toomes Tomoko Tahira Lucas R Mohn Ellen A Blokland Lisette Hetterschijt Manir Ali Johanne M Groothuismink Lonneke Duijkers Chris F Inglehearn Lea Sollfrank Tim M Strom Eiichi Uchio C Erik van Nouhuys Hannie Kremer Joris A Veltman Erwin van Wijk Frans P M Cremers

Proc Natl Acad Sci U S A 2013 Jun 28;110(24):9856-61. Epub 2013 May 28.

Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1220864110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683717PMC
June 2013

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Authors:
Konstantinos Nikopoulos Isabelle Schrauwen Marleen Simon Rob W J Collin Marc Veckeneer Kathelijn Keymolen Guy Van Camp Frans P M Cremers L Ingeborgh van den Born

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. Epub 2011 Jul 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-7128DOI Listing
July 2011

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Authors:
Konstantinos Nikopoulos Hanka Venselaar Rob W J Collin Rosa Riveiro-Alvarez F Nienke Boonstra Johanna M M Hooymans Arijit Mukhopadhyay Deborah Shears Marleen van Bers Ilse J de Wijs Anthonie J van Essen Rolf H Sijmons Mauk A D Tilanus C Erik van Nouhuys Carmen Ayuso Lies H Hoefsloot Frans P M Cremers

Hum Mutat 2010 Jun;31(6):656-66

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21250DOI Listing
June 2010

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Authors:
Konstantinos Nikopoulos Christian Gilissen Alexander Hoischen C Erik van Nouhuys F Nienke Boonstra Ellen A W Blokland Peer Arts Nienke Wieskamp Tim M Strom Carmen Ayuso Mauk A D Tilanus Sanne Bouwhuis Arijit Mukhopadhyay Hans Scheffer Lies H Hoefsloot Joris A Veltman Frans P M Cremers Rob W J Collin

Am J Hum Genet 2010 Feb;86(2):240-7

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820179PMC
February 2010

L1 retrotransposition can occur early in human embryonic development.

Authors:
José A J M van den Hurk Iwan C Meij Maria del Carmen Seleme Hiroki Kano Konstantinos Nikopoulos Lies H Hoefsloot Erik A Sistermans Ilse J de Wijs Arijit Mukhopadhyay Astrid S Plomp Paulus T V M de Jong Haig H Kazazian Frans P M Cremers

Hum Mol Genet 2007 Jul 4;16(13):1587-92. Epub 2007 May 4.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddm108DOI Listing
July 2007

T- and B-cutaneous pseudolymphomas treated by surgical excision and immediate reconstruction.

Authors:
Alexander Dionyssopoulos Ioanna Mandekou-Lefaki Florentina Silvia Delli Dimitrios Kourtis Andreas Nikolis Eleni Dionyssopoulou Konstantinos Nikopoulos

Dermatol Surg 2006 Dec;32(12):1526-9

Division of Skin Oncologic Surgery-Plastic Surgery, 1st Department of Dermatology, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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http://dx.doi.org/10.1111/j.1524-4725.2006.32368.xDOI Listing
December 2006

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Authors:
Arijit Mukhopadhyay Konstantinos Nikopoulos Alessandra Maugeri Arjan P M de Brouwer C Eric van Nouhuys Camiel J F Boon Rahat Perveen Hester A A Zegers Dienke Wittebol-Post Pieter R van den Biesen Saskia D van der Velde-Visser Han G Brunner Graeme C M Black Carel B Hoyng Frans P M Cremers

Invest Ophthalmol Vis Sci 2006 Aug;47(8):3565-72

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.06-0141DOI Listing
August 2006