Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Bernhard Csillag"'
Autor:
Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder “spinal muscular atrophy with congenital bone fractures-2” (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature
Externí odkaz:
https://doaj.org/article/4a17473717f247b2b3e96b896af55a6c
Autor:
Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutati
Externí odkaz:
https://doaj.org/article/09d82289bff1482faa7925d93a31400d
Autor:
René G. Feichtinger, Katarína Kušíková, Johannes A. Mayr, Denisa Weis, Serge Weis, Bernhard Csillag, Ognian Kalev, Hans-Christoph Duba
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutati
Autor:
Gabriele Wiesinger-Eidenberger, Sebastian Sailer, Simon Kargl, Natascha Pramhofer, Maria Magdalena Nöhammer, Bernhard Csillag
Publikováno v:
Case Reports in Perinatal Medicine. 10
Objectives Peripherally inserted central catheters (PICC) are used in the neonatal intensive care unit (NICU) setting for medication and nutrition administration. PICCs are easy to place and may remain inserted up to several weeks. Serious complicati
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation
Autor:
Gerald Webersinke, Manfred Meissl, Bernhard Csillag, Franco Laccone, Satoshi Narumi, Hans-Christoph Duba, Denisa Ilencikova, Oskar A. Haas
Publikováno v:
Pediatric Blood & Cancer. 66:e27589
MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro