Resultats de la cerca - Konstantinos Nikopoulos

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  1. 1
    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis per Marta Cortón, Koji M. Nishiguchi, Almudena Ávila‐Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Álvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

    Publicat 2013
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  2. 2
    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels per André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren T. Christensen, Carlo Rivolta, Jens Andersen, Pietro Farinelli, Lotte B. Pedersen

    Publicat 2021
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  3. 3
    Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

    Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy per Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C. E. van Nouhuys, F. Nienke Boonstra, Ellen A.W. Blokland, Peer Arts, Nienke Wieskamp, Tim M. Strom, Carmen Ayuso, M. A. D. Tilanus, Sanne Bouwhuis, Arijit Mukhopadhyay, Hans Scheffer, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Rob W.J. Collin

    Publicat 2010
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  4. 4
    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP per Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Álvarez, 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, M. A. D. Tilanus, C. Erik van Nouhuys, Carmen Ayuso, Lies H. Hoefsloot, Frans P.M. Cremers

    Publicat 2010
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  5. 5
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination per Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani 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 Leroy, Elfride De Baere

    Publicat 2016
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  6. 6
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects per Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Béryl Royer‐Bertrand, Martial Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijévic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

    Publicat 2016
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  7. 7
    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature per 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 Mohn, Ellen A.W. Blokland, Lisette Hetterschijt, Manir Ali, Johanne M. Groothuismink, Lonneke Duijkers, Chris F. Inglehearn, Lea Sollfrank, Tim M. Strom, Eiichi Uchio, C. E. van Nouhuys, Hannie Kremer, Joris A. Veltman, Erwin van Wijk, Frans P.M. Cremers

    Publicat 2013
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  8. 8
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis per Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben‐Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert K. Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez-de-la-Rúa-Franch, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P.M. Cremers, Susanne Roosing

    Publicat 2023
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