Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Andreas Rump"'
Autor:
Dieter Niederacher, Mateja Smogavec, Konstantin Weber-Lassalle, Ellen Honisch, Judit Horvath, Victoria G. Paul, Christian Ruckert, Thomas Haaf, Norbert Arnold, N Herold, Katharina Keupp, Bernhard H. F. Weber, Julika Borde, Beatrix Versmold, Janine Altmüller, Alfons Meindl, Andreas Rump, Sabine Grill, Verena Hübbel, Christoph Engel, Shan Wang-Gohrke, Juliane Ramser, Holger Thiele, Christian Kubisch, Bernd Dworniczak, Alexander E Volk, Nana Weber-Lassalle, Jan Hauke, Kerstin Rhiem, Corinna Ernst, Gunnar Schmidt, Nadine Lichey, Peter Nürnberg, Christian Sutter, Barbara Wappenschmidt, Julia Hentschel, Nina Ditsch, Rita K. Schmutzler, Andrea Gehrig, Bernd Auber, Karl Hackmann, Eva Groß, Esther Pohl, Eric Hahnen, Ulrike Faust
Publikováno v:
Cancer Medicine
The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84f65d6830970778a48b280c3c3aae2
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83861
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83861
Publikováno v:
Breast cancer research and treatment. 167(1)
Autor:
Laura, Gieldon, Jimmy Rusdian, Masjkur, Susan, Richter, Roland, Därr, Marcos, Lahera, Daniela, Aust, Silke, Zeugner, Andreas, Rump, Karl, Hackmann, Andreas, Tzschach, Andrzej, Januszewicz, Aleksander, Prejbisz, Graeme, Eisenhofer, Evelin, Schrock, Mercedes, Robledo, Barbara, Klink
Publikováno v:
European journal of endocrinology. 178(2)
Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that we
Autor:
Karl Hackmann, Andreas Rump, Kerstin Kutsche, Sigrid Fuchs, Nataliya Di Donato, Albrecht Kobelt, Anna Podolska, Evelin Schröck
Publikováno v:
American journal of medical genetics. Part A. 173(5)
Pattern of X chromosome inactivation (XCI) is typically random in females. However, chromosomal rearrangements affecting the X chromosome can result in XCI skewing due to cell growth disadvantage. In case of an X;autosome translocation, this usually
Autor:
Tracey Oh, Cornelius F. Boerkoel, Kenneth J. Poskitt, Michelle Demos, Laura Arbour, Athena Chou, Tanya N. Nelson, Nataliya Tyshchenko, Margot I. Van Allen, Jingyi Yin, Barbara McGillivray, Andreas Rump, Robin Friedlander, Christèle du Souich, Jane Hurlburt
Publikováno v:
American Journal of Medical Genetics Part A. :2469-2478
X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominen
Autor:
Sara Osimani, Andrew E. Fry, Koenraad Devriendt, Débora Romeo Bertola, Marjan M. Nezarati, Han G. Brunner, Grazia M.S. Mancini, Jorge L. Juncos, Pirayeh Eftekhari, Nataliya Di Donato, Marjolijn C.J. Jongmans, Laurence Faivre, Gilles Morin, Małgorzata J.M. Nowaczyk, Didier Lacombe, Zeichi-Seide Roseli, Conny M. A. van Ravenswaaij, Daniela Melis, Julien Masliah-Planchon, William B. Dobyns, Alexander Hoischen, Hatice Koçak Eker, Marlies Kempers, Andreas Rump, Vera Uliana, Victoria Mok Siu, Fabienne Giuliano, Nicole Philip, Beate Albrecht, Omar A Abdul-Raman, Alain Verloes, Mirjam Klaus, Angela E. Lin, Massimiliano Rossi, Albert David, Bregje W.M. van Bon, Jeanette C. Ramer, Ludivine Templin, Séverine Drunat, Yves Sznajer, Vincent Procaccio, Jean-Baptiste Rivière, Mary Ella M Pierpont, Francesca Faravelli, Judith Allanson, Leina Guion Almeida, Daniela T. Pilz, Cristina Rusu, Nicolas Chassaing, Charles Marques Lourenço, Bruce H. Wainer, Valérie Drouin-Garraud
Publikováno v:
European Journal of Human Genetics, 23(3), 292. Nature Publishing Group
Eur J Hum Genet
Eur J Hum Genet, 2014, 23, pp.292-301. ⟨10.1038/ejhg.2014.95⟩
European Journal of Human Genetics, 23(3), 292-301. Nature Publishing Group
European Journal of Human Genetics, 23, 3, pp. 292-301
European Journal of Human Genetics, 23, 292-301
European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)
Paediatrics Publications
Eur J Hum Genet
Eur J Hum Genet, 2014, 23, pp.292-301. ⟨10.1038/ejhg.2014.95⟩
European Journal of Human Genetics, 23(3), 292-301. Nature Publishing Group
European Journal of Human Genetics, 23, 3, pp. 292-301
European Journal of Human Genetics, 23, 292-301
European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)
Paediatrics Publications
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d59a289fd417971e5c5cbc83f908234
https://dspace.library.uu.nl/handle/1874/335851
https://dspace.library.uu.nl/handle/1874/335851
Autor:
Nataliya Tyshchenko, Andreas Rump, Sigrid Tinschert, Evelin Schröck, Teresa Neuhann, Eva-Maria Gerlach, Karl Hackmann, K. Heisch, Gabriele Hahn
Publikováno v:
American journal of medical genetics. Part A. (9)
We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set,
Autor:
Felix Zintl, Masanori Onda, Astrid Voigt, Daniel Steinbach, Kristin Dawczynski, Alexander Schramm, Angelika Eggert, Susann Wittig, Andreas Rump, Ira Pastan, Nadine Pfaffendorf, Bernd Gruhn
Background: Monitoring of minimal residual disease (MRD) has become a strong diagnostic tool in acute lymphoblastic leukemia. It is used for risk-adapted therapy and for the recognition of pending relapses. In acute myeloid leukemia (AML), there is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3663f1ab02be1a0808052fddec208fd8
https://www.ncbi.nlm.nih.gov/pubmed/16638849
https://www.ncbi.nlm.nih.gov/pubmed/16638849
Autor:
Karl Hackmann, Barbara Klink, Evelin Schröck, Sophie Eisenreich, Rolf Bjerkvig, Janice M. Nigro, Matthias Platzer, Gabriele Schackert, Khalil Abou-El-Ardat, Jaime Alberto Campos Valenzuela, Karol Szafranski, Andreas Rump, Eva-Maria Gerlach, Lars Kaderali, Dietmar Krex
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e76623 (2013)
PLoS ONE
PLoS ONE
Oligodendroglial tumors form a distinct subgroup of gliomas, characterized by a better response to treatment and prolonged overall survival. Most oligodendrogliomas and also some oligoastrocytomas are characterized by a unique and typical unbalanced