检索结果 - Elke Holinski‐Feder

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  1. 1
    Economic evaluation of genetic screening for Lynch syndrome in Germany

    Economic evaluation of genetic screening for Lynch syndrome in Germany 由 Franziska Severin, Björn Stollenwerk, Elke Holinski‐Feder, Elisabeth Meyer, Volker Heinemann, Clemens Gießen-Jung, Wolf Rogowski

    出版 2015
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  2. 2
    Biallelic MUTYH mutations can mimic Lynch syndrome

    Biallelic MUTYH mutations can mimic Lynch syndrome 由 Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle, Elke Holinski‐Feder

    出版 2014
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  3. 3
    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standard ACMG/AMP classification system

    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standa... 由 Anna Benet‐Pagès, Andreas Laner, Luis R Nassar, Tobias Wohlfrom, Verena Steinke‐Lange, Maximilian Haeussler, Elke Holinski‐Feder

    出版 2025
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  4. 4
    Distinction of Hereditary Nonpolyposis Colorectal Cancer and Sporadic Microsatellite-Unstable Colorectal Cancer through Quantification of MLH1 Methylation by Real-time PCR

    Distinction of Hereditary Nonpolyposis Colorectal Cancer and Sporadic Microsatellite-Unstable Colorectal Cancer through Quantification of MLH1 Methylation by Real-time PCR 由 Marcus Bettstetter, Stephan Dechant, Petra Ruemmele, Monika Grabowski, Gisela Keller, Elke Holinski‐Feder, Arndt Hartmann, Ferdinand Hofstaedter, Wolfgang Dietmaier

    出版 2007
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  5. 5
    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 由 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

    出版 2012
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  6. 6
    Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

    Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome 由 Monika Morak, Udo Koehler, Hans K. Schackert, Verena Steinke, Brigitte Royer‐Pokora, Karsten Schulmann, Matthias Kloor, W. Höchter, J. Weingart, C. Keiling, Trisari Massdorf, Elke Holinski‐Feder

    出版 2011
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  7. 7
    Beta2‐microglobulin mutations in microsatellite unstable colorectal tumors

    Beta2‐microglobulin mutations in microsatellite unstable colorectal tumors 由 Matthias Kloor, Sara Michel, Boris Buckowitz, Josef Rüschoff, Reinhard Büttner, Elke Holinski‐Feder, Wolfgang Dippold, Rudolf Wagner, Mirjam Tariverdian, Axel Benner, Yvette Schwitalle, Beate Kuchenbuch, Magnus von Knebel Doeberitz

    出版 2007
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  8. 8
    Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic <i>MSH6</i> Germline Mutations Compared With Families With <i>MLH1</i> or <i>MSH2</i> Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium

    Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic <i>MSH6</i> Germline Mutations Compared With Families With <i>MLH1</i> or <i>MSH2... 由 Jens Plaschke, Christoph Engel, Stefan Krüger, Elke Holinski‐Feder, Constanze Pagenstecher, Elisabeth Mangold, Gabriela Möslein, Karsten Schulmann, Johannes Gebert, Magnus von Knebel Doeberitz, Josef Rüschoff, Markus Loeffler, Hans K. Schackert

    出版 2004
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  9. 9
    Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

    Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients 由 Ariane Hallermayr, Tobias Wohlfrom, Verena Steinke‐Lange, Anna Benet‐Pagès, Florentine Scharf, Ellen Heitzer, Ulrich Mansmann, C. Haberl, Maike de Wit, H. Vogelsang, Markus Rentsch, Elke Holinski‐Feder, Julia M. A. Pickl

    出版 2022
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  10. 10
    Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

    Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC 由 Monika Morak, Hans Konrad Schackert, Nils Rahner, Beate Betz, Matthias Ebert, Constanze Walldorf, Brigitte Royer‐Pokora, Karsten Schulmann, Magnus von Knebel Doeberitz, Wolfgang Dietmaier, Gisela Keller, Brigitte Kerker, Gertraud Leitner, Elke Holinski‐Feder

    出版 2008
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  11. 11
    High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

    High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome 由 Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, M. Stolte, Mark M. Entius, Steffan Loff, Walter Back, Astrid Kaufmann, KM Keller, Stefan Blaas, Reiner Siebert, Stefanie Vogt, S Spranger, Elke Holinski‐Feder, Lone Sunde, Peter Propping, W Friedl

    出版 2007
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  12. 12
    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 由 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

    出版 2014
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  13. 13
    Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing

    Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing 由 Hannes Erdmann, Florian Schöberl, Mădălina Giurgiu, Rafaela L. Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nübling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski‐Feder, Dieter A Wolf, Angela Abicht

    出版 2022
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  14. 14
    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 由 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

    出版 2015
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  15. 15
    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 由 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

    出版 2016
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  16. 16
    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency 由 John P. Kemp, Paul Smith, Angela Pyle, Vivienne C. M. Neeve, Helen Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F. Chinnery, Zofia M. Chrzanowska‐Lightowlers, Robert N. Lightowlers, Robert W. Taylor, Rita Horváth

    出版 2010
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  17. 17
    Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

    Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study 由 Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski‐Feder, Stefanie Holzapfel, Robert Hüneburg, Matthias Kloor, Magnus von Knebel Doeberitz, Monika Morak, Gabriela Möslein, Jacob Nattermann, Claudia Perne, Nils Rahner, Wolff Schmiegel, Karsten Schulmann, Verena Steinke‐Lange, Christian P. Strassburg, Deepak Vangala, Jürgen Weitz, Markus Loeffler, Christoph Engel

    出版 2020
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  18. 18
    Association Between TAS2R38 Gene Polymorphisms and Colorectal Cancer Risk: A Case-Control Study in Two Independent Populations of Caucasian Origin

    Association Between TAS2R38 Gene Polymorphisms and Colorectal Cancer Risk: A Case-Control Study in Two Independent Populations of Caucasian Origin 由 Maura Carrai, Verena Steinke, Pavel Vodička, Barbara Pardini, Nils Rahner, Elke Holinski‐Feder, Monika Morak, Hans K. Schackert, Heike Görgens, Susanne Stemmler, Beate Betz, Matthias Kloor, Christoph Engel, Reinhard Büttner, Alessio Naccarati, Ludmila Vodičková, Jan Novotný, Angelika Stein, Kari Hemminki, Peter Propping, Asta Försti, Federico Canzian, Roberto Barale, Daniele Campa

    出版 2011
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  19. 19
    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles 由 Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck, Alice D. Gargano, Amy K. Sullivan, Valérie Biancalana, Karen Brøndum‐Nielsen, Helle Hjalgrim, Elke Holinski‐Feder, R. Frank Kooy, John Longshore, James Macpherson, Jean‐Louis Mandel, Gert Matthijs, François Rousseau, Peter Steinbach, Marja‐Leena Väisänen, Harriet von Koskull, Stephanie L. Sherman

    出版 2003
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  20. 20
    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 由 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

    出版 2014
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