Výsledky vyhledávání - Isabel Spier

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  1. 1
    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature Autor Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, Ute Grasshoff, Michael Bonin, Regina C. Betz, Andreas Dufke, Isabel Spier, Thomas Eggermann

    Vydáno 2012
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  2. 2
    Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history

    Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history Autor Emadeldin Hassanin, Patrick May, Rana Aldisi, Isabel Spier, Andreas J. Forstner, Markus M. Nöthen, Stefan Aretz, Peter Krawitz, Dheeraj Reddy Bobbili, Carlo Maj

    Vydáno 2021
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  3. 3
    Deep intronic<i>APC</i>mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

    Deep intronic<i>APC</i>mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis Autor Isabel Spier, Sukanya Horpaopan, Stefanie Vogt, Siegfried Uhlhaas, Monika Morak, Dietlinde Stienen, Markus Draaken, Michael Ludwig, Elke Holinski‐Feder, Markus M. Nöthen, Per Hoffmann, Stefan Aretz

    Vydáno 2012
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  4. 4
    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy Autor Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa

    Vydáno 2017
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  5. 5
    MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

    MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events Autor Stefan Aretz, Rossella Tricarico, Laura Papi, Isabel Spier, Elisa Pin, Sukanya Horpaopan, Emanuela Lucci‐Cordisco, Monica Pedroni, Dietlinde Stienen, Annamaria Gentile, Anna Panza, Ada Piepoli, Maurizio Ponz de Leòn, Waltraut Friedl, Alessandra Viel, Maurizio Genuardi

    Vydáno 2013
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  6. 6
    Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

    Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence Autor Emadeldin Hassanin, Isabel Spier, Dheeraj Reddy Bobbili, Rana Aldisi, Hannah Klinkhammer, Friederike S. David, Núria Dueñas, Robert Hüneburg, Claudia Perne, Joan Brunet, Gabriel Capellà, Markus M. Nöthen, Andreas J. Forstner, Andreas Mayr, Peter Krawitz, Patrick May, Stefan Aretz, Carlo Maj

    Vydáno 2023
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  7. 7
    Frequency and phenotypic spectrum of germline mutations in<i>POLE</i>and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

    Frequency and phenotypic spectrum of germline mutations in<i>POLE</i>and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas Autor Isabel Spier, Stefanie Holzapfel, Janine Altmüller, Bixiao Zhao, Sukanya Horpaopan, Stefanie Vogt, Sophia Chen, Monika Morak, Susanne Raeder, Katrin Kayser, Dietlinde Stienen, R. Adam, Peter Nürnberg, Guido Plotz, Elke Holinski‐Feder, Richard P. Lifton, Hölger Thiele, Per Hoffmann, Verena Steinke, Stefan Aretz

    Vydáno 2014
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  8. 8
    Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

    Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p... Autor Robert Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, Maurizio Genuardi, Frederik J. Hes, Robert Hüneburg, Heikki Järvinen, Fiona Lalloo, Gabriela Möslein, Laura Renkonen‐Sinisalo, Nicoletta Resta, Isabel Spier, Dora Varvara, Hans F. A. Vasen, Andrew Latchford, Karl Heinimann

    Vydáno 2020
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  9. 9
    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations Autor Gabriela Jones, Pia Østergaard, Anthony T. Moore, Fiona Connell, Denise Williams, Oliver Quarrell, Angela F. Brady, Isabel Spier, Fılız Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A. Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter Mortimer, Pradeep Vasudevan, Sahar Mansour

    Vydáno 2013
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  10. 10
    Low-level<i>APC</i>mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

    Low-level<i>APC</i>mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases Autor Isabel Spier, Dmitriy Drichel, Martin Kerick, Jutta Kirfel, Sukanya Horpaopan, Andreas Laner, Stefanie Holzapfel, Sophia Peters, R. Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Sven Perner, Per Hoffmann, Glen Kristiansen, Bernd Timmermann, Markus M. Nöthen, Elke Holinski‐Feder, Michal R. Schweiger, Stefan Aretz

    Vydáno 2015
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  11. 11
    Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

    Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis Autor Isabel Spier, Martin Kerick, Dmitriy Drichel, Sukanya Horpaopan, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, R. Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Elke Holinski‐Feder, Sven Perner, Hölger Thiele, Markus M. Nöthen, Per Hoffmann, Bernd Timmermann, Michal R. Schweiger, Stefan Aretz

    Vydáno 2016
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  12. 12
    Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

    Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis Autor Sukanya Horpaopan, Isabel Spier, Alexander M. Zink, Janine Altmüller, Stefanie Holzapfel, Andreas Laner, Stefanie Vogt, Siegfried Uhlhaas, Stefanie Heilmann‐Heimbach, Dietlinde Stienen, Sandra M. Pasternack, Kathleen Keppler, R. Adam, Katrin Kayser, Susanne Moebus, Markus Draaken, Franziska Degenhardt, Hartmut Engels, Andrea Hofmann, Markus M. Nöthen, Verena Steinke, Alberto Pérez-Bouza, Stefan Herms, Elke Holinski‐Feder, Holger Fröhlich, Hölger Thiele, Per Hoffmann, Stefan Aretz

    Vydáno 2014
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  13. 13
    Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

    Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis Autor R. Adam, Isabel Spier, Bixiao Zhao, Michael Kloth, Jonathan Marquez, Inga Hinrichsen, Jutta Kirfel, Aylar Tafazzoli, Sukanya Horpaopan, Siegfried Uhlhaas, Dietlinde Stienen, Nicolaus Friedrichs, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Katrin Kayser, Hölger Thiele, Elke Holinski‐Feder, Giancarlo Marra, Glen Kristiansen, Markus M. Nöthen, Reinhard Büttner, Gabriela Möslein, Regina C. Betz, Angela Brieger, Richard P. Lifton, Stefan Aretz

    Vydáno 2016
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  14. 14
    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... Autor Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz

    Vydáno 2023
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  15. 15
    2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022

    2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022 Autor Sarah Kane, Nikita Mehta, Yelena Kemel, Vignesh Ravichandran, Ryan Ptashkin, Anna Maio, Amanda Catchings, Dina Green, Megha Ranganathan, Erin Mullen, Diana Mandelker, Zsofia K. Stadler, Alicia Latham, J. N. Cooper, Sarah McGee, Lauren Bokovitz, Sudipto Mukherjee, David Liska, James S. Blachly, Hetty E. Carraway, Harry Lesmana, Brittany Griffin, Giulia Martina Cavestro, Marta Puzzono, Alessandro Mannucci, Simone Grannò, Laura Poliani, Luca Albarello, Silvana Lobo, Patrick R. Benusiglio, Florence Coulet, Lise Boussemart, Lisa Golmard, Isabel Spier, Robert Hu ̈neburg, Stefan Aretz, Liselotte van Hest, Judith Balmañ, Sigrid Tinschert, Bryson W. Katona, Melyssa Aronson, Augusto Antoniazzi, Carolyn Horton, Rachid Karam, Leticia Moreira, Jolanda van Dieren, Chrystelle Colas, Paulo S. Pereira, Carla Oliveíra

    Vydáno 2023
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  16. 16
    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome Autor Linda A.J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg‐Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J.W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke‐Lange, Violetta Anastasiadou, Chrystelle Colas, Marie‐Charlotte Villy, Patrick R. Benusiglio, А. В. Герасименко, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, Mustafa Ömer Yazıcıoğlu, Rachel S. van der Post, Janneke Schuurs-Hoeijmakers, Liselotte P. van Hest, Muriel A. Adank, Floor A.M. Duijkers, Maartje Nielsen, Katja C J Verbeek, Yvette van Ierland, Jacques C. Giltay, Janet R. Vos, Janet R. Vos

    Vydáno 2022
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  17. 17
    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype Autor Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed, Maartje Nielsen, Robbert D.A. Weren, Claire Palles, Marjolijn J. L. Ligtenberg, Janet R. Vos, Sanne W. ten Broeke, Noel F.C.C. de Miranda, Renske Kuiper, Eveline J. Kamping, Erik A. M. Jansen, M. Elisa Vink-Börger, I Popp, Alois Lang, Isabel Spier, Robert Hüneburg, Paul A. James, Na Li, Marija Staninova, Helen Lindsay, D.J. Cockburn, Olivera Spasić-Bošković, Mark Clendenning, Kevin Sweet, Gabriel Capellà, Wenche Sjursen, Hildegunn Høberg‐Vetti, Marjolijn C.J. Jongmans, Kornelia Neveling, Ad Geurts van Kessel, Hans Morreau, Frederik J. Hes, Rolf H. Sijmons, Hans K. Schackert, Clara Ruíz-Ponte, Dagmara Dymerska, Jan Lubiński, Bárbara Rivera, William D. Foulkes, Ian Tomlinson, Laura Valle, Daniel D. Buchanan, Sue Kenwrick, Julian Adlard, Aleksandar Dimovski, Ian Campbell, Stefan Aretz, Detlev Schindler, Tom van Wezel, Nicoline Hoogerbrugge, Roland P. Kuiper

    Vydáno 2019
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  18. 18
    Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

    Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome Autor Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya M. Bisseling, Virginie Bubien, F. Caux, Nathalie Chabbert‐Buffet, Chrystelle Colas, Sophie Da Mota Gomes, Martin Gotthardt, Nicoline Hoogerbrugge, Marleen Kets, Katherine Lachlan, Thera P. Links, Michel Longy, Ritse M. Mann, Sjaak Pouwels, Leo J. Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet R. Vos, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Rianne Oostenbrink, Rolf H. Sijmons, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke‐Lange, Elke Holinski‐Feder, Evelin Schröck, Thierry Frébourg, Claude Houdayer, Chrystelle Colas, P. Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin De Putter, Ignacio Blanco, Gabriel Capellà, Joan Brunet, Conxi Lázaro, Judith Balmañà, Héctor Salvador, Carla Oliveíra, Manuel R. Teixeira, Svetlana Lagercrantz, Emma Tham, Jan Lubiński, Karolina Ertmańska, Béla Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala

    Vydáno 2020
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  19. 19
    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Autor Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude‐Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus‐Eric Ott, Markus Schülke, Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Regina C. Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro‐Gomez, Ahmad Aziz, Marcus Grobe‐Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Paweł Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee‐Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, A. Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Cordula Kiewert, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler‐Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania C. Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P. Schaaf, Michal Zawada

    Vydáno 2024
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