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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Published in:
Hereditary Cancer in Clinical Practice, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s13053-018-0102-4
By:
- Henn, Jonas;
- Spier, Isabel;
- Adam, Ronja S.;
- Holzapfel, Stefanie;
- Uhlhaas, Siegfried;
- Kayser, Katrin;
- Plotz, Guido;
- Peters, Sophia;
- Aretz, Stefan
Publication type:
Article
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Published in:
Hereditary Cancer in Clinical Practice, 2017, v. 15, p. 1, doi. 10.1186/s13053-017-0082-9
By:
- Horpaopan, Sukanya;
- Kirfel, Jutta;
- Peters, Sophia;
- Kloth, Michael;
- Hüneburg, Robert;
- Altmüller, Janine;
- Drichel, Dmitriy;
- Odenthal, Margarete;
- Kristiansen, Glen;
- Strassburg, Christian;
- Nattermann, Jacob;
- Hoffmann, Per;
- Nürnberg, Peter;
- Büttner, Reinhard;
- Thiele, Holger;
- Kahl, Philip;
- Spier, Isabel;
- Aretz, Stefan
Publication type:
Article
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2252, doi. 10.1002/ajmg.a.61314
By:
- Spier, Isabel;
- Engels, Hartmut;
- Stutte, Sonja;
- Reutter, Heiko;
- Bartels, Enrika;
- Matos Meder, Sarah;
- Begemann, Matthias;
- Mangold, Elisabeth;
- Eggermann, Thomas
Publication type:
Article
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01469-z
By:
- Hassanin, Emadeldin;
- Spier, Isabel;
- Bobbili, Dheeraj R.;
- Aldisi, Rana;
- Klinkhammer, Hannah;
- David, Friederike;
- Dueñas, Nuria;
- Hüneburg, Robert;
- Perne, Claudia;
- Brunet, Joan;
- Capella, Gabriel;
- Nöthen, Markus M.;
- Forstner, Andreas J.;
- Mayr, Andreas;
- Krawitz, Peter;
- May, Patrick;
- Aretz, Stefan;
- Maj, Carlo
Publication type:
Article
Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.
Published in:
Cancers, 2020, v. 12, n. 12, p. 3726, doi. 10.3390/cancers12123726
By:
- Marwitz, Tim;
- Hüneburg, Robert;
- Spier, Isabel;
- Lau, Jan-Frederic;
- Kristiansen, Glen;
- Lingohr, Philipp;
- Kalff, Jörg C.;
- Aretz, Stefan;
- Nattermann, Jacob;
- Strassburg, Christian P.
Publication type:
Article
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263
By:
- Jones, Gabriela E;
- Ostergaard, Pia;
- Moore, Anthony T;
- Connell, Fiona C;
- Williams, Denise;
- Quarrell, Oliver;
- Brady, Angela F;
- Spier, Isabel;
- Hazan, Filiz;
- Moldovan, Oana;
- Wieczorek, Dagmar;
- Mikat, Barbara;
- Petit, Florence;
- Coubes, Christine;
- Saul, Robert A;
- Brice, Glen;
- Gordon, Kristiana;
- Jeffery, Steve;
- Mortimer, Peter S;
- Vasudevan, Pradeep C
Publication type:
Article
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 923, doi. 10.1038/ejhg.2012.309
By:
- 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
Publication type:
Article
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Published in:
PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0259185
By:
- Perne, Claudia;
- Peters, Sophia;
- Cartolano, Maria;
- Horpaopan, Sukanya;
- Grimm, Christina;
- Altmüller, Janine;
- Sommer, Anna K.;
- Hillmer, Axel M.;
- Thiele, Holger;
- Odenthal, Margarete;
- Möslein, Gabriela;
- Adam, Ronja;
- Sivalingam, Sugirthan;
- Kirfel, Jutta;
- Schweiger, Michal R.;
- Peifer, Martin;
- Spier, Isabel;
- Aretz, Stefan
Publication type:
Article
Überwuchssyndrome durch Mutationsmosaike im PI3K-AKT-Signalweg.
Published in:
Medizinische Genetik, 2017, v. 29, n. 3, p. 306, doi. 10.1007/s11825-017-0153-3
By:
- Spier, Isabel;
- Aretz, Stefan
Publication type:
Article
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 14, p. 1273, doi. 10.1093/hmg/ddab094
By:
- Taylor, Henry;
- Yerlioglu, Dilay;
- Phen, Claudia;
- Ballauff, Antje;
- Nedelkopoulou, Natalia;
- Spier, Isabel;
- Loverdos, Inés;
- Busoni, Veronica B;
- Heise, Jürgen;
- Dale, Peter;
- Meij, Tim de;
- Sweet, Kevin;
- Cohen, Marta C;
- Fox, Victor L;
- Mas, Emmanuel;
- Aretz, Stefan;
- Eng, Charis;
- Buderus, Stephan;
- Thomson, Mike;
- Rojas, Isabel
Publication type:
Article
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Published in:
International Journal of Cancer, 2018, v. 143, n. 11, p. 2800, doi. 10.1002/ijc.31725
By:
- Kayser, Katrin;
- Degenhardt, Franziska;
- Holzapfel, Stefanie;
- Horpaopan, Sukanya;
- Peters, Sophia;
- Spier, Isabel;
- Morak, Monika;
- Vangala, Deepak;
- Rahner, Nils;
- Knebel‐Doeberitz, Magnus;
- Schackert, Hans K.;
- Engel, Christoph;
- Büttner, Reinhard;
- Wijnen, Juul;
- Doerks, Tobias;
- Bork, Peer;
- Moebus, Susanne;
- Herms, Stefan;
- Fischer, Sascha;
- Hoffmann, Per
Publication type:
Article
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Published in:
International Journal of Cancer, 2015, v. 137, n. 2, p. 320, doi. 10.1002/ijc.29396
By:
- Spier, Isabel;
- Holzapfel, Stefanie;
- Altmüller, Janine;
- Zhao, Bixiao;
- Horpaopan, Sukanya;
- Vogt, Stefanie;
- Chen, Sophia;
- Morak, Monika;
- Raeder, Susanne;
- Kayser, Katrin;
- Stienen, Dietlinde;
- Adam, Ronja;
- Nürnberg, Peter;
- Plotz, Guido;
- Holinski‐Feder, Elke;
- Lifton, Richard P.;
- Thiele, Holger;
- Hoffmann, Per;
- Steinke, Verena;
- Aretz, Stefan
Publication type:
Article
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Published in:
International Journal of Cancer, 2015, v. 136, n. 6, p. E578, doi. 10.1002/ijc.29215
By:
- Horpaopan, Sukanya;
- Spier, Isabel;
- Zink, Alexander M.;
- Altmüller, Janine;
- Holzapfel, Stefanie;
- Laner, Andreas;
- Vogt, Stefanie;
- Uhlhaas, Siegfried;
- Heilmann, Stefanie;
- Stienen, Dietlinde;
- Pasternack, Sandra M.;
- Keppler, Kathleen;
- Adam, Ronja;
- Kayser, Katrin;
- Moebus, Susanne;
- Draaken, Markus;
- Degenhardt, Franziska;
- Engels, Hartmut;
- Hofmann, Andrea;
- Nöthen, Markus M.
Publication type:
Article
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Published in:
Familial Cancer, 2016, v. 15, n. 2, p. 281, doi. 10.1007/s10689-016-9870-z
By:
- Spier, Isabel;
- Kerick, Martin;
- Drichel, Dmitriy;
- Horpaopan, Sukanya;
- Altmüller, Janine;
- Laner, Andreas;
- Holzapfel, Stefanie;
- Peters, Sophia;
- Adam, Ronja;
- Zhao, Bixiao;
- Becker, Tim;
- Lifton, Richard;
- Holinski-Feder, Elke;
- Perner, Sven;
- Thiele, Holger;
- Nöthen, Markus;
- Hoffmann, Per;
- Timmermann, Bernd;
- Schweiger, Michal;
- Aretz, Stefan
Publication type:
Article
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
Published in:
Acta Neuropathologica, 2022, v. 144, n. 6, p. 1143, doi. 10.1007/s00401-022-02505-5
By:
- Goschzik, Tobias;
- Mynarek, Martin;
- Doerner, Evelyn;
- Schenk, Alina;
- Spier, Isabel;
- Warmuth-Metz, Monika;
- Bison, Brigitte;
- Obrecht, Denise;
- Struve, Nina;
- Kortmann, Rolf-Dieter;
- Schmid, Matthias;
- Aretz, Stefan;
- Rutkowski, Stefan;
- Pietsch, Torsten
Publication type:
Article
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
Published in:
Human Mutation, 2012, v. 33, n. 7, p. 1045, doi. 10.1002/humu.22082
By:
- Spier, Isabel;
- Horpaopan, Sukanya;
- Vogt, Stefanie;
- Uhlhaas, Siegfried;
- Morak, Monika;
- Stienen, Dietlinde;
- Draaken, Markus;
- Ludwig, Michael;
- Holinski-Feder, Elke;
- Nöthen, Markus M.;
- Hoffmann, Per;
- Aretz, Stefan
Publication type:
Article
Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
Published in:
Der Pathologe, 2020, v. 41, n. 5, p. 535, doi. 10.1007/s00292-020-00806-8
By:
- Perne, Claudia;
- Steinke-Lange, Verena;
- Aretz, Stefan;
- Spier, Isabel
Publication type:
Article
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
Published in:
JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 1, p. 93, doi. 10.1093/jnci/djac188
By:
- Hendricks, Linda A J;
- Hoogerbrugge, Nicoline;
- Mensenkamp, Arjen R;
- Brunet, Joan;
- Lleuger-Pujol, Roser;
- Høberg-Vetti, Hildegunn;
- Haavind, Marianne Tveit;
- Innella, Giovanni;
- Turchetti, Daniela;
- Aretz, Stefan;
- Spier, Isabel;
- Tischkowitz, Marc;
- Jahn, Arne;
- Links, Thera P;
- Olderode-Berends, Maran J W;
- Blatnik, Ana;
- Leter, Edward M;
- Evans, D Gareth;
- Woodward, Emma R;
- Steinke-Lange, Verena
Publication type:
Article
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44120-8
By:
- Wiik, Mariann Unhjem;
- Negline, Mia;
- Beisvåg, Vidar;
- Clapham, Matthew;
- Holliday, Elizabeth;
- Dueñas, Nuria;
- Brunet, Joan;
- Pineda, Marta;
- Bonifaci, Nuria;
- Aretz, Stefan;
- Klinkhammer, Hannah;
- Spier, Isabel;
- Perne, Claudia;
- Mayr, Andreas;
- Valle, Laura;
- Lubinski, Jan;
- Sjursen, Wenche;
- Scott, Rodney J.;
- Talseth-Palmer, Bente A.
Publication type:
Article

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