Zobrazeno 51 - 60
of 108
pro vyhledávání: '"Andreas Rump"'
Autor:
Karl Hackmann, Barbara Klink, Beatriz Carvalho, Dietmar Krex, Matthias Lehmann, Michael Seifert, Evelin Schröck, Kerstin Becker, Achim Temme, Gabriele Schackert, Sophie Eisenreich, Andreas Rump, Khalil Abou-El-Ardat, Gerrit A. Meijer
Publikováno v:
Neuro-oncology. 19(4)
Background The evolution of primary glioblastoma (GBM) is poorly understood. Multifocal GBM (ie, multiple synchronous lesions in one patient) could elucidate GBM development. Methods We present the first comprehensive study of 12 GBM foci from 6 pati
Autor:
Luisa Mackenroth, Nataliya Di Donato, Andreas Rump, Andreas Tzschach, Stefanie Beck-Wödl, Evelin Schröck, Jens Schallner, Laura Gieldon, Elitza Betcheva-Krajcir
Publikováno v:
American journal of medical genetics. Part A. 173(9)
Mutations in DLG3 are a rare cause of non-syndromic X-linked intellectual disability (XLID) (MRX90, OMIM *300189). Only ten DLG3 mutations have been reported to date. The majority of female heterozygous mutation carriers was healthy and had random X-
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:
Nataliya Di Donato, Kerstin Becker, Michael J. Friez, Christine Chaponnier, Michael C. Frühwald, Constanca Figueiredo, Evelin Schröck, Barbara Klink, Werner Stenzel, Katharina Sarnow, Konrad Grützmann, Sharissa L. Latham, Michael J. Lyons, Manuel H. Taft, Andreas Rump, Indra Niehaus, Jennifer A. Lee, Teresa Neuhann, Theresia Reindl, P. Reinke, Nadja Ehmke, Ramona Hecker, Dietmar J. Manstein, Dorothee Eicke, Ralf Knöfler, Luzie Gawehn, Denise Horn
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications
Nature Communications
Germline mutations in the ubiquitously expressed ACTB, which encodes β-cytoplasmic actin (CYA), are almost exclusively associated with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF). Here, we report six patients with previously undescribed he
Autor:
Atakan Aydin, Sigrid Tinschert, Sigmar Stricker, Sylvia Bähring, Lisanne Schulze, Konrad Platzer, Friedrich C. Luft, Philipp G. Maass, Andreas Rump, Herbert Schulz, Mary B. Goldring
Publikováno v:
Journal of Clinical Investigation. 122:3990-4002
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chro
Autor:
Steffen Emmert, Holger Thiele, Evelin Schröck, Eva Machackova, Karl Hackmann, Steffen Schubert, Filip Lhota, Luisa Mackenroth, Barbara Klink, Andreas Rump, Janin Lehmann, Romy Opitz, Karin Kast, Elitza Betcheva-Krajcir, Anna Benet-Pagès, Jan Dominik Kuhlmann, Petra Zemankova, Pauline Wimberger, Zdenek Kleibl, Nataliya DiDonato, Elke Holinski-Feder, Anke M. Nissen, Ramūnas Janavičius, Lenka Foretova
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in
Autor:
Marlene Garzarolli, Evelin Schröck, Barbara Klink, Andreas Rump, Jessica Pablik, Hans K. Schackert, Steffen Pistorius, Daniela Aust
Publikováno v:
Hereditary Cancer in Clinical Practice
Background Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neurofibromatosis (NF) 1. The risk
Autor:
Alma Kuechler, Susan Sell, Karl Hackmann, Evelin Schröck, William B. Dobyns, Sabiha Merchant, Janine Altmüller, Sarah Collins, Nina Bögershausen, Galen N. Breningstall, Samantha A. Schrier Vergano, Wolfram Heinritz, Roger L. Ladda, Joann Bodurtha, Andrew E. Timms, Carissa Olds, Nataliya Di Donato, Andreas Rump
Publikováno v:
American journal of medical genetics. Part A. 170(10)
Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this c
Autor:
Gustavo B. Baretton, Christoph Kahlert, Thilo Welsch, Franziska Kuhlee, Pauline Wimberger, Andreas Rump, Andreas Tzschach, Karl Hackmann, Jürgen Weitz, Joseph Porrmann, Barbara Klink, Johannes Wagner, Karin Kast, Evelin Schröck, Laura Gieldon, Arne Jahn, Daniela Aust, Michael Laniado, Anne-Karin Kahlert
Publikováno v:
Cancer Research. 78:1410-1410
Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer death in western countries, although lifetime risk is estimated at only 1.3% in the general population. BRCA2 mutations, however, have been attributed with a lifetime risk f
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