Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Katrin Knoflach"'
Autor:
Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant p
Externí odkaz:
https://doaj.org/article/dc7a871eb18547b29046bbf552c654c5
Autor:
Matthias Griese, Panagiota Panagiotou, Effrosyni D. Manali, Mirjam Stahl, Nicolaus Schwerk, Vanessa Costa, Konstantinos Douros, Maria Kallieri, Ruth Maria Urbantat, Horst von Bernuth, Lykourgos Kolilekas, Lurdes Morais, Ana Ramos, Kerstin Landwehr, Katrin Knoflach, Florian Gothe, Karl Reiter, Vassiliki Papaevangelou, Athanasios G. Kaditis, Christina Kanaka-Gantenbein, Spyros A. Papiris
Publikováno v:
ERJ Open Research, Vol 8, Iss 1 (2022)
In childhood, a multitude of causes lead to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space, limiting gas exchange. Autoantibodies against granulocyte–macrophage colony-stimulating factor (GM-CSF) ca
Externí odkaz:
https://doaj.org/article/80e55b59b9a04dfdb1567d9a0288e94f
Autor:
Katrin Knoflach, Eva Holzapfel, Timo Roser, Lieselotte Rudolph, Marco Paolini, Maximilian Muenchhoff, Andreas Osterman, Matthias Griese, Matthias Kappler, Ulrich von Both
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Children have been described to show neurological symptoms in acute coronavirus disease 2019 (COVID-19) and multisystemic inflammatory syndrome in children (MIS-C). We present a 2-year-old boy's clinical course of unilateral acute sixth nerve palsy i
Externí odkaz:
https://doaj.org/article/4be0671d005c425ebb71a7b9ca095bdd
Autor:
Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, Matthias Griese
BackgroundThe majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345af061d5d8a30e301c537e2228edc6
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23188
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23188
Autor:
Maria Mangova, Katrin Knoflach, Simone Reu-Hofer, ChristinaK. Rapp, FranzWolfgang Hirsch, Daniel Gräfe, Maike vom Hove, Nagehan Emiralioglu, TugbaRamasli Gürsoy, Nicola Ullmann, Matthias Griese, Freerk Prenzel
Publikováno v:
Klinische Pädiatrie.
Autor:
Matthias Griese, Panagiota Panagiotou, Effrosyni D. Manali, Mirjam Stahl, Nicolaus Schwerk, Vanessa Costa, Konstantinos Douros, Maria Kallieri, Ruth Maria Urbantat, Horst von Bernuth, Lykourgos Kolilekas, Lurdes Morais, Ana Ramos, Kerstin Landwehr, Katrin Knoflach, Florian Gothe, Karl Reiter, Vassiliki Papaevangelou, Athanasios G. Kaditis, Christina Kanaka-Gantenbein, Spyros A. Papiris
Publikováno v:
ERJ Open Research. :00701-2021
In childhood, a multitude of causes leads to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space limiting gas exchange. Autoantibodies against GM-CSF causing autoimmune PAP, the principle etiology in adult
Autor:
K. Rapp Christina, AlexV. Postma, Katrin Knoflach, AlexanderE. Volk, JohannesR. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, SamaraM. Jansen, HarmJ. Bogaard, Aho Ilgun, Mariëlle Alders, KarinY. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stephan Gräf, Christian Kubisch, ArjanC. Houweling, Matthias Griese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e1cb1d7b3357ff6ee6d873281870ae
https://doi.org/10.1055/s-0043-1761555
https://doi.org/10.1055/s-0043-1761555
Autor:
Matthias, Griese, Panagiota, Panagiotou, Effrosyni D, Manali, Mirjam, Stahl, Nicolaus, Schwerk, Vanessa, Costa, Konstantinos, Douros, Maria, Kallieri, Ruth Maria, Urbantat, Horst, von Bernuth, Lykourgos, Kolilekas, Lurdes, Morais, Ana, Ramos, Kerstin, Landwehr, Katrin, Knoflach, Florian, Gothe, Karl, Reiter, Vassiliki, Papaevangelou, Athanasios G, Kaditis, Christina, Kanaka-Gantenbein, Spyros A, Papiris
Publikováno v:
ERJ open research. 8(1)
In childhood, a multitude of causes lead to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space, limiting gas exchange. Autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) caus
Autor:
Matthias Griese, Peter N Robinson, Julia Carlens, Nagehan Emiralioglu, Nicolaus Schwerk, Nural Kiper, Elias Seidl, Martin Wetzke, Christina K Rapp, Katrin Knoflach, Astrid Madsen Ring, Frederik Buchvald
Publikováno v:
Rare ILD / DPLD.
Autor:
Jonathan Gehrig, Christina K Rapp, Nicolaus Schwerk, Florian Länger, Dirk Schramm, Stephan Ehl, Julia Ley-Zaporozhan, Matthias Griese, Simone Reu-Hofer, Florian Gothe, Laura Faletti, Katrin Knoflach
Publikováno v:
Pediatric pulmonologyREFERENCES. 56(12)
Gain-of-function variants in STAT3 are known to cause severe, multifaceted autoimmunity. Here we report three individuals with de-novo STAT3 GOF alleles and early-onset, severe interstitial lung disease manifesting during the first 3 years of life. I