Benchmarking whole exome sequencing in the German network for personalized medicine.

Autor: Menzel M; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany. Electronic address: michael.menzel@med.uni-heidelberg.de., Martis-Thiele M; Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Germany., Goldschmid H; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Ott A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Romanovsky E; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Siemanowski-Hrach J; Institute of Pathology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Seillier L; Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany; Joint Research Center Computational Biomedicine, University Hospital RWTH Aachen, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany., Brüchle NO; Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany., Maurer A; Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany., Lehmann KV; Joint Research Center Computational Biomedicine, University Hospital RWTH Aachen, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Cancer Research Center Cologne-Essen, University Hospital Cologne, Germany; Machine Learning in Cancer Genetis and Precision Medicine, University RWTH Aachen, Aachen, Germany., Begemann M; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Institute for Human Genetics and Genomic Medicine., University Hospital RWTH Aachen, Aachen, Germany; NGS diagnostic centre, University Hospital RWTH Aachen, Aachen, Germany., Elbracht M; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Institute for Human Genetics and Genomic Medicine., University Hospital RWTH Aachen, Aachen, Germany., Meyer R; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany., Dintner S; Pathology, Faculty of Medicine, University of Augsburg, Germany., Claus R; Pathology, Faculty of Medicine, University of Augsburg, Germany; Comprehensive Cancer Center, Faculty of Medicine, University of Augsburg, Germany., Meier-Kolthoff JP; Chair of Biomedical Informatics, Data Mining and Data Analytics, Faculty of Applied Computer Science, University of Augsburg, Germany., Blanc E; Core Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Möbs M; Institute of Pathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Joosten M; Institute of Pathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Benary M; Core Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany; Charité Comprehensive Cancer Center, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Basitta P; Universitätsklinikum Bonn, Molekularpathologische Diagnostik, Institut für Pathologie, Venusberg Campus 1, 53127 Bonn, Germany., Hölscher F; Universitätsklinikum Bonn, Molekularpathologische Diagnostik, Institut für Pathologie, Venusberg Campus 1, 53127 Bonn, Germany., Tischler V; Universitätsklinikum Bonn, Molekularpathologische Diagnostik, Institut für Pathologie, Venusberg Campus 1, 53127 Bonn, Germany., Groß T; Core Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases Dresden (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany., Kutz O; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Germany; National Center for Tumor Diseases (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany; German Cancer Consortium (DKTK), Dresden, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Prause R; Core Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases Dresden (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany., William D; Core Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases Dresden (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany; ERN GENTURIS, Hereditary Cancer Syndrome Center Dresden, Germany; National Center for Tumor Diseases (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany; German Cancer Consortium (DKTK), Dresden, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Horny K; Center for Personalized Medicine Oncology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany; Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Goering W; Institute of Pathology, University Hospital Duesseldorf., Sivalingam S; Institute of Human Genetics, Medical Faculty, University Hospital of Düsseldorf, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany., Borkhardt A; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, HHU Düsseldorf, Germany; German Cancer Consortium (DKTK), partner site Essen-Düsseldorf, Germany., Blank C; Institute of Human Genetics, Medical Faculty, University Hospital of Düsseldorf, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany., Junk SV; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, HHU Düsseldorf, Germany., Yasin L; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, HHU Düsseldorf, Germany., Moskalev EA; Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany; Center for Personalized Medicine (ZPM), Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany; Bavarian Cancer Research Center (BZKF), Erlangen, Germany., Carta MG; Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany; Center for Personalized Medicine (ZPM), Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany; Bavarian Cancer Research Center (BZKF), Erlangen, Germany., Ferrazzi F; Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany; Center for Personalized Medicine (ZPM), Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany; Bavarian Cancer Research Center (BZKF), Erlangen, Germany; Department of Nephropathology, Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany., Tögel L; Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany; Center for Personalized Medicine (ZPM), Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany; Bavarian Cancer Research Center (BZKF), Erlangen, Germany., Wolter S; Institute for Surgical Pathology, Medical Center, University of Freiburg, Germany; Center for Personalized Medicine (ZPM), partner site Freiburg, Germany; Comprehensive Cancer Center Freiburg (CCCF), Medical Center, Freiburg, Germany., Adam E; Institute for Surgical Pathology, Medical Center, University of Freiburg, Germany; Center for Personalized Medicine (ZPM), partner site Freiburg, Germany; Comprehensive Cancer Center Freiburg (CCCF), Medical Center, Freiburg, Germany., Matysiak U; Institute for Surgical Pathology, Medical Center, University of Freiburg, Germany; Center for Personalized Medicine (ZPM), partner site Freiburg, Germany; Comprehensive Cancer Center Freiburg (CCCF), Medical Center, Freiburg, Germany., Rosenthal T; Institut für Pathologie, Universitätsmedizin Göttingen, Germany., Dönitz J; Institut für Bioinformatik, Universitätsmedizin Göttingen, Germany., Lehmann U; Institute of Pathology, Hannover Medical School, Hannover, Germany., Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bartels S; Institute of Pathology, Hannover Medical School, Hannover, Germany., Hofmann W; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Hirsch S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Göbel K; Department of Neuropathology, University Hospital Heidelberg, Germany., Banan R; Department of Neuropathology, University Hospital Heidelberg, Germany., Hamelmann S; Department of Neuropathology, University Hospital Heidelberg, Germany., Fink A; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Ball M; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany., Neumann O; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Rehker J; Institute of Pathology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Kloth M; Institut für Pathologie, Universitätsmedizin Mainz, Germany., Murtagh J; Institut für Pathologie, Universitätsmedizin Mainz, Germany., Hartmann N; Institut für Pathologie, Universitätsmedizin Mainz, Germany., Jurmeister P; Institute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany; German Cancer Consortium, German Cancer Research Center (DKTK/DKFZ), Munich, Partner Site, Munich, Germany., Mock A; Institute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany; German Cancer Consortium, German Cancer Research Center (DKTK/DKFZ), Munich, Partner Site, Munich, Germany., Kumbrink J; Institute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany; German Cancer Consortium, German Cancer Research Center (DKTK/DKFZ), Munich, Partner Site, Munich, Germany., Jung A; Institute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany; German Cancer Consortium, German Cancer Research Center (DKTK/DKFZ), Munich, Partner Site, Munich, Germany., Mayr EM; Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Germany., Jacob A; Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Germany., Trautmann M; Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Münster, Germany; West German Cancer Center, University Hospital Münster, Münster, Germany., Kirmse S; Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Münster, Germany; West German Cancer Center, University Hospital Münster, Münster, Germany., Falkenberg K; Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Münster, Germany; West German Cancer Center, University Hospital Münster, Münster, Germany., Ruckert C; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany., Hirsch D; Institute of Pathology, University of Regensburg, Germany., Immel A; Institute of Pathology, University of Regensburg, Germany; Centrum für Translationale Onkologie, Universitätsklinikum Regensburg, Germany., Dietmaier W; Institute of Pathology, University of Regensburg, Germany., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Marienfeld R; Institute of Pathology, University Hospital Ulm, Germany; Centers for Personalized Medicine (ZPM), Ulm, Germany., Fürstberger A; Institute of Pathology, University Hospital Ulm, Germany; Centers for Personalized Medicine (ZPM), Ulm, Germany., Niewöhner J; Institute of Pathology, University Hospital Ulm, Germany; Centers for Personalized Medicine (ZPM), Ulm, Germany., Gerstenmaier U; Institute of Pathology, University Hospital Ulm, Germany; Centers for Personalized Medicine (ZPM), Ulm, Germany., Eberhardt T; Centers for Personalized Medicine (ZPM), Ulm, Germany; Department of Medicine III, University Hospital, LMU Munich, Munich, Germany., Greif PA; German Cancer Consortium, German Cancer Research Center (DKTK/DKFZ), Munich, Partner Site, Munich, Germany; Department of Medicine III, University Hospital, LMU Munich, Munich, Germany; Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany., Appenzeller S; Comprehensive Cancer Center Mainfranken, University Hospital Wuerzburg, Germany., Maurus K; Institute of Pathology, University of Wuerzburg, Germany., Doll J; Institute of Pathology, University of Wuerzburg, Germany., Jelting Y; Institute of Human Genetics, University of Wuerzburg, Germany., Jonigk D; Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Lung Research Centre (DZL), Hannover, Germany., Märkl B; Pathology, Faculty of Medicine, University of Augsburg, Germany., Beule D; Core Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Horst D; Institute of Pathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany., Wulf AL; Universitätsklinikum Bonn, Molekularpathologische Diagnostik, Institut für Pathologie, Venusberg Campus 1, 53127 Bonn, Germany., Aust D; Core Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases Dresden (NCT), NCT/UCC Dresden, a partnership between German Cancer Research Center (DKFZ), Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Germany; Institut für Pathologie, Universitätsklinikum Carl Gustav Carus der TU Dresden, Fetscherstr. 74, 01307 Dresden, Germany., Werner M; Institute for Surgical Pathology, Medical Center, University of Freiburg, Germany; Center for Personalized Medicine (ZPM), partner site Freiburg, Germany; Comprehensive Cancer Center Freiburg (CCCF), Medical Center, Freiburg, Germany; German Cancer Consortium (DKTK), Partner Site Freiburg, Germany., Reuter-Jessen K; Institut für Pathologie, Universitätsmedizin Göttingen, Germany., Ströbel P; Institut für Pathologie, Universitätsmedizin Göttingen, Germany., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Sahm F; Department of Neuropathology, University Hospital Heidelberg, Germany; CCU Neuropathology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Merkelbach-Bruse S; Institute of Pathology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Siebolts U; Institute of Pathology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Roth W; Institut für Pathologie, Universitätsmedizin Mainz, Germany., Lassmann S; Institute for Surgical Pathology, Medical Center, University of Freiburg, Freiburg, Germany; Center for Personalized Medicine (ZPM), Freiburg, Germany., Klauschen F; Department of Human Genetics, Hannover Medical School, Hannover, Germany; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Gaisa NT; Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany; Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Münster, Germany., Weichert W; Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Germany., Evert M; Institute of Pathology, University of Regensburg, Germany., Armeanu-Ebinger S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Malek N; Centers for Personalized Medicine (ZPM), Germany; Department of Gastroenterology, Tübingen University Hospital, Tübingen, Germany., Schirmacher P; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Kazdal D; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany., Pfarr N; Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Germany., Budczies J; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany., Stenzinger A; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany; German Cancer Consortium (DKTK), Germany. Electronic address: albrecht.stenzinger@med.uni-heidelberg.de.

Publikováno v: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2024 Nov; Vol. 211, pp. 114306. Date of Electronic Publication: 2024 Sep 08.

Liquid biopsy in colon cancer: comparison of different circulating DNA extraction systems following absolute quantification of KRAS mutations using Intplex allele-specific PCR.

Autor: Kloten V; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Rüchel N; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Brüchle NO; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Gasthaus J; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Freudenmacher N; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany.; Centralized Biomaterial Bank of RWTH Aachen University (RWTH cBMB), Institute of Pathology, University Hospital Aachen, Aachen, Germany., Steib F; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Mijnes J; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Eschenbruch J; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Binnebösel M; Department of Visceral and Transplantation Surgery, University Hospital Aachen, Aachen, Germany., Knüchel R; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany., Dahl E; Molecular Oncology Group, Institute of Pathology, University Hospital Aachen, Aachen, Germany.; Centralized Biomaterial Bank of RWTH Aachen University (RWTH cBMB), Institute of Pathology, University Hospital Aachen, Aachen, Germany.

Publikováno v: Oncotarget [Oncotarget] 2017 Sep 21; Vol. 8 (49), pp. 86253-86263. Date of Electronic Publication: 2017 Sep 21 (Print Publication: 2017).

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Autor: Sachwitz J; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Meyer R; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Fekete G; II Department of Pediatrics, Semmelweis University, Budapest, Hungary., Spranger S; Praxis für Humangenetik, Bremen, Germany., Matulevičienė A; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Kučinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Bach A; HSK Dr. Horst Schmidt Kliniken, Klinik für Kinder und Jugendliche, Wiesbaden, Germany., Luczay A; II Department of Pediatrics, Semmelweis University, Budapest, Hungary., Brüchle NO; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Eggermann K; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Zerres K; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Elbracht M; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Eggermann T; Institute of Human Genetics, RWTH Aachen, Aachen, Germany.

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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Autor: Bergmann C; Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany. cbergmann@ukaachen.de, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H

Publikováno v: American journal of human genetics [Am J Hum Genet] 2008 Apr; Vol. 82 (4), pp. 959-70. Date of Electronic Publication: 2008 Mar 27.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Autor: Frank V; Department of Human Genetics, RWTH Aachen University, Aachen, Germany., den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C

Publikováno v: Human mutation [Hum Mutat] 2008 Jan; Vol. 29 (1), pp. 45-52.