Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Nikopoulos, Konstantinos, Gilissen, Christian, Hoischen, Alexander, Erik van Nouhuys, C., Boonstra, F. Nienke, Blokland, Ellen A.W., Arts, Peer, Wieskamp, Nienke, Strom, Tim M., Ayuso, Carmen, Tilanus, Mauk A.D., Bouwhuis, Sanne, Mukhopadhyay, Arijit, Scheffer, Hans, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Collin, Rob W.J.
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
Collin, Rob W. J., Nikopoulos, Konstantinos, Dona, Margo, Gilissen, Christian, Hoischen, Alexander, Boonstra, F. Nienke, Poulter, James A., Kondo, Hiroyuki, Berger, Wolfgang, Toomes, Carmel, Tahira, Tomoko, Mohn, Lucas R., Blokland, Ellen A., Hetterschijt, Lisette, Ali, Manir, Groothuismink, Johanne M., Duijkers, Lonneke, Inglehearn, Chris F., Sollfrank, Lea, Strom, Tim M., Uchio, Eiichi, van Nouhuys, C. Erik, Kremer, Hannie, Veltman, Joris A., van Wijk, Erwin, Cremers, Frans P. M.
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
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Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy
Boonstra, F. Nienke, van Nouhuys, C. Erik, Schuil, Jose, de Wijs, Ilse J, van der Donk, Kim P, Nikopoulos, Kostas, Mukhopadhyay, Arijit, Scheffer, Hans, Tilanus, Mauk A. D, Cremers, Frans P. M, Hoefsloot, Lies H
Published in Investigative ophthalmology & visual science (01.09.2009)
Published in Investigative ophthalmology & visual science (01.09.2009)
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Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Karjosukarso, Dyah W, Cremers, Frans P M, van Nouhuys, C Erik, Collin, Rob W J
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP
Nikopoulos, Konstantinos, Venselaar, Hanka, Collin, Rob W.J, Riveiro-Alvarez, Rosa, Boonstra, F. Nienke, Hooymans, Johanna M.M, Mukhopadhyay, Arijit, Shears, Deborah, van Bers, Marleen, de Wijs, Ilse J, van Essen, Anthonie J, Sijmons, Rolf H, Tilanus, Mauk A.D, van Nouhuys, C. Erik, Ayuso, Carmen, Hoefsloot, Lies H, Cremers, Frans P.M
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Mukhopadhyay, Arijit, Kramer, Jamie M, Merkx, Gerard, Lugtenberg, Dorien, Smeets, Dominique F, Oortveld, Merel A. W, Blokland, Ellen A. W, Agrawal, Jyoti, Schenck, Annette, van Bokhoven, Hans, Huys, Erik, Schoenmakers, Eric F, van Kessel, Ad Geurts, van Nouhuys, C. Erik, Cremers, Frans P. M
Published in Human genetics (01.09.2010)
Published in Human genetics (01.09.2010)
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Journal Article
Identification of 21 novel variants in FZD4, LRP5, NDP and an overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease
Nikopoulos, Konstantinos, Venselaar, Hanka, Collin, Rob W., Riveiro-Alvarez, Rosa, Boonstra, F Nienke, Hooymans, Johanna M.M., Mukhopadhyay, Arijit, Shears, Deborah, van Bers, Marleen, de Wijs, Ilse J., Sijmons, Rolf H, Tilanus, Mauk A.D., van Nouhuys, C. Erik, Ayuso, Carmen, Hoefsloot, Lies H., Cremers, Frans P. M
Published in Human mutation (25.03.2010)
Published in Human mutation (25.03.2010)
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Mapping of the Autosomal Dominant Exudative Vitreoretinopathy Locus (EVR1) by Multipoint Linkage Analysis in Four Families
Müller, Bertram, Orth, Ulrike, van Nouhuys, C.Erik, Duvigneau, Christine, Fuhrmann, Christian, Schwinger, Eberhard, Laqua, Horst, Gal, Andreas
Published in Genomics (San Diego, Calif.) (15.03.1994)
Published in Genomics (San Diego, Calif.) (15.03.1994)
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