Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Antje Brockschmidt"'
Autor:
Aurelie Tomczak, Christoph Springfeld, Michael T. Dill, De-Hua Chang, Daniel Kazdal, Ursula Wagner, Arianeb Mehrabi, Antje Brockschmidt, Tom Luedde, Patrick Naumann, Albrecht Stenzinger, Peter Schirmacher, Thomas Longerich
Publikováno v:
British journal of cancer. 127(9)
Background Advanced cholangiocarcinoma has a poor prognosis. Molecular targeted approaches have been proposed for patients after progression under first-line chemotherapy treatment. Here, molecular profiling of intrahepatic cholangiocarcinoma in comb
Autor:
Dagmar-Christiane Fischer, Günter Klaus, Franz Schaefer, Diamant Shtiza, Dieter Haffner, Giacomo D. Simonetti, Antje Brockschmidt, Martin Konrad, Ruthild G. Weber, André Heimbach, Paul J.D. Winyard, Stefanie Weber, Laura Christ, Boidinh Chung, Maria Kolatsi-Joannou
Publikováno v:
Brockschmidt, Antje; Chung, Boidinh; Weber, Stefanie; Fischer, Dagmar-Christiane; Kolatsi-Joannou, Maria; Christ, Laura; Heimbach, André; Shtiza, Diamant; Klaus, Günter; Simonetti, Giacomo D; Konrad, Martin; Winyard, Paul; Haffner, Dieter; Schaefer, Franz; Weber, Ruthild G (2012). CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). Nephrology, dialysis, transplantation, 27(6), pp. 2355-64. Oxford: Oxford University Press 10.1093/ndt/gfr649
Background. Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital anomalies of the kidneys and urinary tract (CAKUT) patient. Methods. To explore t
Autor:
Constanze Walldorf, Grischa Toedt, Ruthild G. Weber, Alexander Hoischen, Kristin Bosse, Bernhard Radlwimmer, Hartmut Engels, Christina Landwehr, Peter Propping, Peter Lichter, Antje Brockschmidt
Publikováno v:
Neurology. 68:743-750
Because in most patients with mental retardation (MR), who constitute 2 to 3% of the population, the etiology remains unknown, we wanted to identify novel chromosomal candidate regions and genes associated with the MR phenotype.We screened for microi
Autor:
Philipp Niclas Pfenning, Gerald Seifert, Detlef Trost, Eicke Latz, Peter Angel, Heike Peterziel, Wolfgang Wick, Manfred Jugold, Andreas Waha, Volkmar Hans, Ruthild G. Weber, Alexander Pfeifer, Henriette Grassmann, Dirk Wohlleber, Katrin Zimmermann, Anke Waha, Percy A. Knolle, Claudia Kalla, Felix F. Brockschmidt, Alexander Hoischen, Antje Brockschmidt, Marion Ehrler
Publikováno v:
Brain, 135, 1027-1041
Brain, 135, Pt 4, pp. 1027-1041
Brain, 135, Pt 4, pp. 1027-1041
In a strategy to identify novel genes involved in glioma pathogenesis by molecular characterization of chromosomal translocation breakpoints, we identified the KIAA1797 gene, encoding a protein with an as yet undefined function, to be disrupted by a
Autor:
Alida Filippi, Antje Brockschmidt, Michael Nelles, Ruthild G. Weber, Nicole Eter, Wolfgang Driever, Horst Urbach, Peter Charbel Issa
Publikováno v:
Human genetics. 130(5)
In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt–Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, an
Autor:
Christina Landwehr, Wolfgang Driever, Peter Lichter, Alexander Hoischen, Antje Brockschmidt, Bernhard Radlwimmer, Unda Todt, Soojin Ryu, Hartmut Engels, Ruthild G. Weber, Christian Kubisch, Stefanie Birnbaum, Wilhelm Frenck
Publikováno v:
Human Molecular Genetics
Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of hyperventilation. We report o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd1ba426905baedb499d9aac544bf28
https://hdl.handle.net/11858/00-001M-0000-002C-A758-111858/00-001M-0000-002C-A756-5
https://hdl.handle.net/11858/00-001M-0000-002C-A758-111858/00-001M-0000-002C-A756-5