EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension

por Eichstaedt, Christina A., Song, Jie, Benjamin, Nicola, Harutyunova, Satenik, Fischer, Christine, Grünig, Ekkehard, Hinderhofer, Katrin
Publicado 2016

BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients

por Song, Jie, Hinderhofer, Katrin, Kaufmann, Lilian T., Benjamin, Nicola, Fischer, Christine, Grünig, Ekkehard, Eichstaedt, Christina A.
Publicado 2020

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

por Viales, Rebecca Rodríguez, Eichstaedt, Christina A., Ehlken, Nicola, Fischer, Christine, Lichtblau, Mona, Grünig, Ekkehard, Hinderhofer, Katrin
Publicado 2015

Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression

por Rehnitz, Julia, Messmer, Birgitta, Bender, Ulrike, Nguyen, Xuan Phuoc, Germeyer, Ariane, Hinderhofer, Katrin, Strowitzki, Thomas, Capp, Edison
Publicado 2022

Wild-type transthyretin amyloidosis in female patients

por Kristen, Arnt V, Bauer, Ralf, aus dem Siepen, Fabian, Kimmich, Christoph, Hinderhofer, Katrin, Röcken, Christoph, Katus, Hugo A
Publicado 2015

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation

por Nguyen, Xuan Phuoc, Vilkaite, Adriana, Messmer, Birgitta, Dietrich, Jens E., Hinderhofer, Katrin, Schäkel, Knut, Strowitzki, Thomas, Rehnitz, Julia
Publicado 2022

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

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

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

por Kästner, Bärbel, Behre, Simone, Lutz, Nadine, Bürger, Friederike, Luntz, Steffen, Hinderhofer, Katrin, Bendszus, Martin, Hoffmann, Georg F., Ries, Markus
Publicado 2015

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

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

Novel recurrent chromosomal aberrations detected in clonal plasma cells of light chain amyloidosis patients show potential adverse prognostic effect: first results from a genome-wi...

por Granzow, Martin, Hegenbart, Ute, Hinderhofer, Katrin, Hose, Dirk, Seckinger, Anja, Bochtler, Tilmann, Hemminki, Kari, Goldschmidt, Hartmut, Schönland, Stefan O., Jauch, Anna
Publicado 2017

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

por Rehnitz, Julia, Alcoba, Diego D., Brum, Ilma S., Dietrich, Jens E., Youness, Berthe, Hinderhofer, Katrin, Messmer, Birgitta, Freis, Alexander, Strowitzki, Thomas, Germeyer, Ariane
Publicado 2018

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

por Pfarr, Nicole, Szamalek-Hoegel, Justyna, Fischer, Christine, Hinderhofer, Katrin, Nagel, Christian, Ehlken, Nicola, Tiede, Henning, Olschewski, Horst, Reichenberger, Frank, Ghofrani, Ardeschir HA, Seeger, Werner, Grünig, Ekkehard
Publicado 2011

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

por Pfarr, Nicole, Fischer, Christine, Ehlken, Nicola, Becker-Grünig, Tabea, López-González, Vanesa, Gorenflo, Matthias, Hager, Alfred, Hinderhofer, Katrin, Miera, Oliver, Nagel, Christian, Schranz, Dietmar, Grünig, Ekkehard
Publicado 2013

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

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

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

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

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

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

Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?

por Theobald, Vivienne, Benjamin, Nicola, Seyfarth, Hans-Jürgen, Halank, Michael, Schneider, Marc A., Richtmann, Sarah, Hinderhofer, Katrin, Xanthouli, Panagiota, Egenlauf, Benjamin, Seeger, Rebekka, Hoeper, Marius M., Jonigk, Danny, Grünig, Ekkehard, Eichstaedt, Christina A.
Publicado 2022

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

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

Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?

por Theobald, Vivienne, Grünig, Ekkehard, Benjamin, Nicola, Seyfarth, Hans‐Jürgen, Halank, Michael, Schneider, Marc A., Richtmann, Sarah, Kazdal, Daniel, Hinderhofer, Katrin, Xanthouli, Panagiota, Egenlauf, Benjamin, Harutyunova, Satenik, Hoeper, Marius M., Jonigk, Danny, Sparla, Richard, Muckenthaler, Martina U., Eichstaedt, Christina A.
Publicado 2023

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

por Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, Dworschak, Gabriel C
Publicado 2023