Spliceosome Mutations in Uveal Melanoma

by Josephine Q.N. Nguyen, Wojtek Drabarek, Serdar Yavuzyigitoglu, Eva Medico Salsench, Robert M. Verdijk, Nicole C. Naus, Annelies de Klein, Emine Kiliç, Erwin Brosens
Published 2020-12-01

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

by Natasha M. van Poppelen, Daniël P. de Bruyn, Tolga Bicer, Rob Verdijk, Nicole Naus, Hanneke Mensink, Dion Paridaens, Annelies de Klein, Erwin Brosens, Emine Kiliҫ
Published 2021-12-01

MiRNAs Correlate with HLA Expression in Uveal Melanoma: Both Up- and Downregulation Are Related to Monosomy 3

by Zahra Souri, Annemijn P. A. Wierenga, Emine Kiliç, Erwin Brosens, Stefan Böhringer, Wilma G. M. Kroes, Robert M. Verdijk, Pieter A. van der Velden, Gregorius P. M. Luyten, Martine J. Jager
Published 2021-08-01

Molecular Genetics of Conjunctival Melanoma and Prognostic Value of <i>TERT</i> Promoter Mutation Analysis

by Natasha M. van Poppelen, Jolique A. van Ipenburg, Quincy van den Bosch, Jolanda Vaarwater, Tom Brands, Bert Eussen, Frank Magielsen, Hendrikus J. Dubbink, Dion Paridaens, Erwin Brosens, Nicole Naus, Annelies de Klein, Emine Kiliç, Robert M. Verdijk
Published 2021-05-01

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.

by Erwin Brosens, Janine F Felix, Anne Boerema-de Munck, Elisabeth M de Jong, Elisabeth M Lodder, Sigrid Swagemakers, Marjon Buscop-van Kempen, Ronald R de Krijger, Rene M H Wijnen, Wilfred F J van IJcken, Peter van der Spek, Annelies de Klein, Dick Tibboel, Robbert J Rottier
Published 2020-01-01

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

by Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen
Published 2020-06-01

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

by Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler
Published 2020-11-01

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

by Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Published 2019-01-01