Works matching AU Schamschula, Esther

Results: 8

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1145, doi. 10.1002/humu.24005

By:

Wimmer, Katharina;
Schamschula, Esther;
Wernstedt, Annekatrin;
Traunfellner, Pia;
Amberger, Albert;
Zschocke, Johannes;
Kroisel, Peter;
Chen, Yunjia;
Callens, Tom;
Messiaen, Ludwine

Publication type:

Article

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00603-z

By:

Gallon, Richard;
Brekelmans, Carlijn;
Martin, Marie;
Bours, Vincent;
Schamschula, Esther;
Amberger, Albert;
Muleris, Martine;
Colas, Chrystelle;
Dekervel, Jeroen;
De Hertogh, Gert;
Coupier, Jérôme;
Colleye, Orphal;
Sepulchre, Edith;
Burn, John;
Brems, Hilde;
Legius, Eric;
Wimmer, Katharina

Publication type:

Article

BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01781-0

By:

Fiegl, Heidelinde;
Schnaiter, Simon;
Reimer, Daniel U.;
Leitner, Katharina;
Nardelli, Petra;
Tsibulak, Irina;
Wieser, Verena;
Wimmer, Katharina;
Schamschula, Esther;
Marth, Christian;
Zeimet, Alain G.

Publication type:

Article

Array genotyping as diagnostic approach in medical genetics.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2016

By:

Witsch‐Baumgartner, Martina;
Schwaninger, Gunda;
Schnaiter, Simon;
Kollmann, Franziska;
Burkhard, Silja;
Gröbner, Rebekka;
Mühlegger, Beatrix;
Schamschula, Esther;
Kirchmeier, Peter;
Zschocke, Johannes

Publication type:

Article

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101350

By:

Schamschula, Esther;
Kinzel, Miriam;
Wernstedt, Annekatrin;
Oberhuber, Klaus;
Gottschling, Hendrik;
Schnaiter, Simon;
Friedrichs, Nicolaus;
Merkelbach-Bruse, Sabine;
Zschocke, Johannes;
Gallon, Richard;
Wimmer, Katharina

Publication type:

Article

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.

Published in:

Cancers, 2024, v. 16, n. 11, p. 2129, doi. 10.3390/cancers16112129

By:

Schnaiter, Simon;
Schamschula, Esther;
Laschtowiczka, Juliane;
Fiegl, Heidelinde;
Zschocke, Johannes;
Zeimet, Alain;
Wimmer, Katharina;
Reimer, Daniel

Publication type:

Article

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Published in:

Cancers, 2019, v. 11, n. 8, p. 1081, doi. 10.3390/cancers11081081

By:

Fernández-Rozadilla, Ceres;
Alvarez-Barona, Miriam;
Schamschula, Esther;
Bodo, Sahra;
Lopez-Novo, Anael;
Dacal, Andres;
Calviño-Costas, Consuelo;
Lancho, Angel;
Amigo, Jorge;
Bello, Xabier;
Cameselle-Teijeiro, Jose Manuel;
Carracedo, Angel;
Colas, Chrystelle;
Muleris, Martine;
Wimmer, Katharina;
Ruiz-Ponte, Clara

Publication type:

Article

Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.

Published in:

Epigenetics, 2022, v. 17, n. 8, p. 837, doi. 10.1080/15592294.2021.1959976

By:

Schamschula, Esther;
Lahnsteiner, Angelika;
Assenov, Yassen;
Hagmann, Wolfgang;
Zaborsky, Nadja;
Wiederstein, Markus;
Strobl, Anna;
Stanke, Frauke;
Muley, Thomas;
Plass, Christoph;
Tümmler, Burkhard;
Risch, Angela

Publication type:

Article