Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Felicitas Maier"'
Autor:
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-6 (2023)
Abstract Background Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Case presentation Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss
Externí odkaz:
https://doaj.org/article/96a6f87d5c93413aa125312d7cc455c1
Autor:
Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Abstract USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense v
Externí odkaz:
https://doaj.org/article/698c9b16e7d1463b82071a45d7227565
Autor:
Simone Ahting, Andreas Forstner, Maria Korte, Ilona Krey, Felicitas Maier, Robert Meyer, Linda Rey-Thol, Franziska Schnabel
Publikováno v:
Medizinische Genetik. 34:309-312
Autor:
Ronald Sroka, Georg Hennig, Lesca M. Holdt, Michael Vogeser, Herbert Stepp, Felicitas Maier, Christian Homann, Berthold Koletzko
Publikováno v:
Pediatric Research. 85:349-354
Reliable screening for iron deficiency (ID) has required a blood sample and cost-intensive laboratory measurements. A novel method to non-invasively measure erythrocyte zinc protoporphyrin (ZnPP), an established marker for ID, is evaluated in childre
Autor:
Michael C. Frühwald, Dagmar Wahl, Felicitas Maier, Thomas Eggermann, Uwe Heinrich, Mareike Schimmel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ede0cf88e3c7fc56e97f1d38cab613
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/87729
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/87729
Autor:
Susan M. White, Peter Penzes, Felicitas Maier, Tjitske Kleefstra, Stephen A. Wood, Sehoun Yoon, Donald Basel, Jozef Gecz, Mark A. Corbett, Michael C. Schneider, Sandra Whalen, Slavica Trajkova, Marie Shaw, Elena Sukarova-Angelovska, Euan Parnell, Alison Gardner, Andrea Guerin, Pranoot Tanpaiboon, Gaetan Lesca, Kenneth Rosenbaum, Julie McCarrier, Alfredo Brusco, Sébastien Küry, Martin B. Delatycki, Boris Keren, Catherine E. Keegan, Kathleen Crosby, Michael Piper, Lachlan A. Jolly, Courtney Kiss, Luis A. Pérez-Jurado, Emily Griffin, Simon Sadedin
Publikováno v:
NPJ Genomic Medicine, 5
NPJ Genomic Medicine
NPJ Genomic Medicine, 5, 1
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
NPJ Genomic Medicine
NPJ Genomic Medicine, 5, 1
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bffc7dccfc1912370beae4e7f9743f4
http://hdl.handle.net/10230/46165
http://hdl.handle.net/10230/46165
Autor:
Robert Meyer, Linda Rey-Thol, Frederic Thieme, Felicitas Maier, Andreas Forstner, Maria Korte
Publikováno v:
Medizinische Genetik. 32:347-348
Autor:
Martin Claussen, Felix Prange, Philipp Henn, Johannes Weidenhammer, Antonello D'Andrea, Felicitas Maier, Eduardo Bossone, Christine Fischer, Ekkehard Grünig, Christian Nagel, Nicola Ehlken, Robert Naeije
Publikováno v:
Circulation: Cardiovascular Imaging. 6:117-124
Background— Right atrial (RA) size is important in screening, diagnosis, and follow-up assessment in patients with pulmonary hypertension. The objective of this study was to define normal reference values for RA area by echocardiography in a large
Autor:
Marina Fugmann, Olaf Uhl, Andreas Lechner, Christian Hellmuth, Felicitas Maier, Hans Demmelmair, Berthold Koletzko
Publikováno v:
Prostaglandins Leukot. Essent. Fatty Acids 110, 55-61 (2016)
Background Serum nonesterified fatty acids (NEFA) are known to be associated with the development of insulin resistance. Recently, differences in the NEFA profile were found in subjects with history of gestational diabetes (postGDM) and healthy contr
Autor:
Nicola Ehlken, Hans-Jürgen Seyfarth, Henning Tiede, Frank Stöckl, Simone Wagner, Felicitas Maier, Michael Halank, Felix Prange, Frank Reichenberger, Christoph Fiehn, Christine Fischer, Ekkehard Grünig, Christian Nagel, Norbert Blank, Gerd Staehler, Mona Lichtblau
Publikováno v:
Arthritis Research & Therapy
Introduction The objective of this prospective study was to assess short- and long-term efficacy of exercise training (ET) as add-on to medical therapy in patients with connective tissue disease-associated pulmonary arterial hypertension (CTD-APAH).