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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 9
2022
Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K.; Spier, Isabel 
ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
Sommer, Anna K.; te Paske, Iris B. A. W.; Garcia-Pelaez, Jose; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan und Oliveira, Carla
(2022):
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
In: European Journal of Medical Genetics, Bd. 65, Nr. 5, 104475
Kratz, Christian Peter; Steinke-Lange, Verena; Spier, Isabel; Aretz, Stefan; Schröck, Evelin und Holinski-Feder, Elke
(2022):
Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
In: Geburtshilfe und Frauenheilkunde, Bd. 82, Nr. 1: S. 42-49
2020
Perne, Claudia; Steinke-Lange, Verena; Aretz, Stefan und Spier, Isabel
(2020):
Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
In: Pathologe, Bd. 41, Nr. 5: S. 535-549
Perne, Claudia; Steinke-Lange, Verena; Aretz, Stefan und Spier, Isabel
(2020):
Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
In: Onkologe, Bd. 26, Nr. 3: S. 205-218
2018
Kayser, Katrin; Degenhardt, Franziska; Holzapfel, Stefanie; Horpaopan, Sukanya; Peters, Sophia; Spier, Isabel; Morak, Monika; Vangala, Deepak; Rahner, Nils; Knebel Doeberitz, Magnus von; Schackert, Hans K.; Engel, Christoph; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Susanne; Herms, Stefan; Fischer, Sascha; Hoffmann, Per; Aretz, Stefan und Steinke-Lange, Verena
(2018):
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
In: International Journal of Cancer, Bd. 143, Nr. 11: S. 2800-2813
2016
Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan
(2016):
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288
Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan
(2016):
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179
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Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan
(2016):
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351