Výsledky vyhledávání - Tim Ripperger

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  1. 1
    Breast cancer susceptibility: current knowledge and implications for genetic counselling

    Breast cancer susceptibility: current knowledge and implications for genetic counselling Autor Tim Ripperger, Dorothea Gadzicki, Alfons Meindl, Brigitte Schlegelberger

    Vydáno 2008
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  2. 2
    On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer

    On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer Autor Judith Penkert, Tim Ripperger, Maximilian Schieck, Brigitte Schlegelberger, Doris Steinemann, Thomas Illig

    Vydáno 2016
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  3. 3
    Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation

    Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation Autor Tim Ripperger, Carmela Beger, Nils Rahner, K.-W. Sykora, Clemens L. Bockmeyer, Ulrich Lehmann, Hans Kreipe, Brigitte Schlegelberger

    Vydáno 2009
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  4. 4
    A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

    A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency Autor Katharina Wimmer, Andreas Beilken, R. Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke‐Plaaß, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P. Kratz

    Vydáno 2016
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  5. 5
    <i>MDS1</i> and <i>EVI1</i> complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

    <i>MDS1</i> and <i>EVI1</i> complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies Autor Tim Ripperger, Winfried Hofmann, Jan Christoph Koch, Katayoon Shirneshan, Detlef Haase, Gerald Wulf, P. R. Issing, Matthias Karnebogen, Gunnar Schmidt, Bernd Auber, Brigitte Schlegelberger, Thomas Illig, Birgit Zirn, Doris Steinemann

    Vydáno 2017
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  6. 6
    Heterozygous <i>BRCA1</i> and <i>BRCA2</i> and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer

    Heterozygous <i>BRCA1</i> and <i>BRCA2</i> and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer Autor Christian P. Kratz, Dmitrii Smirnov, Robert J. Autry, Natalie Jäger, Sebastian M. Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M. Pfister, Holger Prokisch, Tim Ripperger, David Malkin

    Vydáno 2022
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  7. 7
    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy Autor Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H. Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn C.J. Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris, Mariëtte van Kouwen, Irene Slavc, Christian P. Kratz, Hans F. A. Vasen, Laurence Brugiѐres, Eric Legius, Katharina Wimmer

    Vydáno 2018
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  8. 8
    Genomic variant profiling in blast‐phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations

    Genomic variant profiling in blast‐phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations Autor Yvonne Lisa Behrens, Thea Reinkens, Winfried Hofmann, Amelie Gumann, Alisa Förster, Laura Gaschler, Tabita Ghete, Renate Strasser, Jennifer Espenkötter, Bernd Haermeyer, Michaela Losch, Stephanie Sembill, Zofia Wotschofsky, Stephan von Hörsten, Wolfgang Schuh, Nataliya Di Donato, Meinolf Suttorp, Manuela Krumbholz, Tim Ripperger, Brigitte Schlegelberger, Gudrun Göhring, Markus Metzler, Axel Karow

    Vydáno 2025
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  9. 9
    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms Autor Bianca Tesi, Josef Davidsson, Matthias Voß, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen‐Ebrahim, Sorina Gorcenco, A. Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan‐Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka S. Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson

    Vydáno 2017
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  10. 10
    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes Autor Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William D. Foulkes, Christian P. Kratz, Tim Ripperger, Amedeo A. Azizi, Hagit Baris Feldman, Anne‐Laure Chong, Uğur Demırsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz‐Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Pérez‐Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G. Seidel, Manon Suerink, Julia Taeubner, Stefanie Zimmermann, Johannes Zschocke, Gillian M. Borthwick, John Burn, Michael S. Jackson, Mauro Santibanez‐Koref, Katharina Wimmer

    Vydáno 2019
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  11. 11
    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group Autor Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn C.J. Jongmans, Beate B. Dörgeloh, Roula Farah, Stavros Glentis, Lisa Golmard, Juliane Hoyer, Kirsi Jahnukainen, Rosalyn Jewell, Axel Karow, K. Katsibardi, Michaela Kuhlen, Andrea Meinhardt, Karolina Nemes, Anna Poluha, Tim Ripperger, Nicolas Waespe, Julian Adlard, Munaza Ahmed, Bernadette Brennan, Tabib Dabir, D. Gareth Evans, Anna Kelsey, Kelly Kohut, A. Kulkarni, Alex Murray, Kai Ren Ong, Anthony Penn, Thomas Semple, Emma R. Woodward, Rachel S. van Leeuwaarde, Annemieke S. Littooij, Johannes H. M. Merks, Åse Krogh Rasmussen, Hanneke M. van Santen, Stephanie E. Smetsers

    Vydáno 2021
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  12. 12
    The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

    The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy Autor Claire C. Homan, Sarah L. King‐Smith, David Lawrence, Peer Arts, Jinghua Feng, James Andrews, M. Armstrong, Thuong Ha, Julia Dobbins, Michael W. Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Paul Liu, Lucy A. Godley, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Anna Brown

    Vydáno 2021
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  13. 13
    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Autor Ana Rio‐Machín, Tom Vulliamy, Nele Hug, Amanda J. Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Al Seraihi, Jenna Alnajar, Findlay Bewicke‐Copley, Hannah Armes, Michael J. Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew R. Hallahan, Henrik Hjorth‐Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth Payne, Rachel Protheroe, Claude Preudhomme, Núria Pujol‐Moix, Aline Renneville, Nigel H. Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John K. Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie Cavenagh, Vincent Plagnol, Javier F. Cáceres, Jude Fitzgibbon, Inderjeet Dokal

    Vydáno 2020
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  14. 14
    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>

    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i> Autor Anna Brown, Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Csaba Bödör, Paul Wang, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley

    Vydáno 2022
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  15. 15
    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i>

    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i> Autor Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Paul Wang, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley, Anna Brown

    Vydáno 2023
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