Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Andreas Rump"'
Autor:
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling
Externí odkaz:
https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239959 (2020)
[This corrects the article DOI: 10.1371/journal.pone.0201041.].
Externí odkaz:
https://doaj.org/article/67aa0983cabd4e0a8b95788e0c4e8afb
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201041 (2018)
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a par
Externí odkaz:
https://doaj.org/article/4a93d15dae9a40be9bf34e6c0eeb5248
Autor:
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
The original version of this Article contained an error in Figure 4. In panel i, the lower CYA and α-SMA images were inadvertently inverted. This has been corrected in both the PDF and HTML versions of the Article.
Externí odkaz:
https://doaj.org/article/91998b811fb04dc49bc89c5cca50080b
Autor:
Sophie Eisenreich, Khalil Abou-El-Ardat, Karol Szafranski, Jaime A Campos Valenzuela, Andreas Rump, Janice M Nigro, Rolf Bjerkvig, Eva-Maria Gerlach, Karl Hackmann, Evelin Schröck, Dietmar Krex, Lars Kaderali, Gabriele Schackert, Matthias Platzer, Barbara Klink
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e76623 (2013)
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
Externí odkaz:
https://doaj.org/article/801c70ba21a348528b99e6c36c4f4533
Autor:
Michael C. Frühwald, Constanca Figueiredo, Barbara Klink, Christine Chaponnier, Ramona Hecker, Nadja Ehmke, Luzie Gawehn, P. Reinke, Theresia Reindl, Sharissa L. Latham, Katharina Sarnow, Dietmar J. Manstein, Werner Stenzel, Konrad Grützmann, Indra Niehaus, Michael J. Friez, Ralf Knöfler, Denise Horn, Nataliya Di Donato, Kerstin Becker, Jennifer A. Lee, Evelin Schröck, Michael J. Lyons, Manuel H. Taft, Teresa Neuhann, Andreas Rump, Dorothee Eicke
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
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:
Barbara Novotna, Luisa Mackenroth, Karl Hackmann, Susanne Markus, Maja von der Hagen, Barbara Klink, Joseph Porrmann, Laura Gieldon, Sabine Weidensee, Anne-Karin Kahlert, Andreas Tzschach, Jens Schallner, Johannes R. Lemke, Nataliya Di Donato, Charlotte Soerensen, Arne Jahn, Johannes Maximilian Wagner, Franziska Kuhlee, Andreas Rump, Evelin Schröck
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239959 (2020)
PLoS ONE
PLoS ONE
[This corrects the article DOI: 10.1371/journal.pone.0201041.].
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:
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