<i>BMPR2</i> Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients

by Jie Song, Katrin Hinderhofer, Lilian T. Kaufmann, Nicola Benjamin, Christine Fischer, Ekkehard Grünig, Christina A. Eichstaedt
Published 2020-10-01

Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

by Rebecca Rodríguez Viales, Christina A Eichstaedt, Nicola Ehlken, Christine Fischer, Mona Lichtblau, Ekkehard Grünig, Katrin Hinderhofer
Published 2015-01-01

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

by Katrin Hinderhofer, Christine Fischer, Nicole Pfarr, Justyna Szamalek-Hoegel, Mona Lichtblau, Christian Nagel, Benjamin Egenlauf, Nicola Ehlken, Ekkehard Grünig
Published 2014-01-01

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses.

by Bärbel Kästner, Simone Behre, Nadine Lutz, Friederike Bürger, Steffen Luntz, Katrin Hinderhofer, Martin Bendszus, Georg F Hoffmann, Markus Ries
Published 2015-01-01

Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients

by Marianne Lerche, Christina A. Eichstaedt, Katrin Hinderhofer, Ekkehard Grünig, Kristin Tausche, Tjalf Ziemssen, Michael Halank, Hubert Wirtz, Hans-Jürgen Seyfarth
Published 2019-09-01

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

by Julia Rehnitz, Diego D. Alcoba, Ilma S. Brum, Jens E. Dietrich, Berthe Youness, Katrin Hinderhofer, Birgitta Messmer, Alexander Freis, Thomas Strowitzki, Ariane Germeyer
Published 2018-07-01

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

by Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers
Published 2019-02-01

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

by Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Published 2021-06-01

KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST.

by Olaf Karl Klinke, Tuba Mizani, Gouri Baldwin, Brigitte Bancel, Mojgan Devouassoux-Shisheboran, Jean-Yves Scoazec, Pierre-Paul Bringuier, Regina Feederle, Anna Jauch, Katrin Hinderhofer, Philippe Taniere, Henri-Jacques Delecluse
Published 2015-01-01

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study

by Christina A. Eichstaedt, Jeremias Verweyen, Michael Halank, Nicola Benjamin, Christine Fischer, Eckhard Mayer, Stefan Guth, Christoph B. Wiedenroth, Benjamin Egenlauf, Satenik Harutyunova, Panagiota Xanthouli, Alberto M. Marra, Heinrike Wilkens, Ralf Ewert, Katrin Hinderhofer, Ekkehard Grünig
Published 2020-05-01