A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation-Dependent Probe Amplification

Por Pagenstecher, Constanze, Gadzicki, Dorothea, Stienen, Dietlinde, Uhlhaas, Siegfried, Mangold, Elisabeth, Rahner, Nils, Arslan-Kirchner, Mine, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Publicado em 2007

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

Por Schumann, Madita, Hofmann, Andrea, Krutzke, Sophia K., Hilger, Alina C., Marsch, Florian, Stienen, Dietlinde, Gembruch, Ulrich, Ludwig, Michael, Merz, Waltraut M., Reutter, Heiko
Publicado no J Neurodev Disord (2016)

Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

Por Kaufmann, Astrid, Vogt, Stefanie, Uhlhaas, Siegfried, Stienen, Dietlinde, Kurth, Ingo, Hameister, Horst, Mangold, Elisabeth, Kötting, Judith, Kaminsky, Elke, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Publicado em 2009

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Por Aretz, Stefan, Tricarico, Rossella, Papi, Laura, Spier, Isabel, Pin, Elisa, Horpaopan, Sukanya, Cordisco, Emanuela Lucci, Pedroni, Monica, Stienen, Dietlinde, Gentile, Annamaria, Panza, Anna, Piepoli, Ada, de Leon, Maurizio Ponz, Friedl, Waltraut, Viel, Alessandra, Genuardi, Maurizio
Publicado em 2014

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

Por Adam, Ronja, Spier, Isabel, Zhao, Bixiao, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmüller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Nöthen, Markus M., Büttner, Reinhard, Möslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P., Aretz, Stefan
Publicado no Am J Hum Genet (2016)