Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Karolina Skipalova"'
Autor:
Felix Boschann, Daniel Acero Moreno, Martin A. Mensah, Henrike L. Sczakiel, Karolina Skipalova, Manuel Holtgrewe, Stefan Mundlos, Björn Fischer-Zirnsak
Publikováno v:
Journal of Human Genetics
Bilateral laryngeal abductor paralysis is a rare entity and the second most common cause of stridor in newborns. So far, no conclusive genetic or chromosomal aberration has been reported for X-linked isolated bilateral vocal cord paralysis, also refe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f06b471bc1c0335941a2b9e68709b8
https://doi.org/10.1038/s10038-022-01018-z
https://doi.org/10.1038/s10038-022-01018-z
Autor:
Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Publikováno v:
Nature
Nature, 614, 7948, pp. 564-571
Nature, 614, 564-571
Nature, 614, 7948, pp. 564-571
Nature, 614, 564-571
Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions1–3. Intri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d44f81500de5059b7ca491edb8534c
http://hdl.handle.net/2445/200283
http://hdl.handle.net/2445/200283
Autor:
Libuse Lizcova, Karolina Skipalova, Silvia Izakova, Adela Berkova, Lenka Pavlistova, Iveta Sarova, Zuzana Zemanova, Cyril Šálek, Jana Brezinova, Anna Jonasova, Kyra Michalova, Lucie Hodanova, Karla Svobodova, Sarka Ransdorfova
Publikováno v:
Leukemia Research. 68:85-89
Dicentric chromosomes (DCs) are considered markers of cancer in various malignancies. However, they can be overlooked when conventional analysis or multicolor fluorescence in situ hybridization (mFISH) is used to detect complex karyotypes. We analyze
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a557db8880d4747ab55a955acb2e61f
https://doi.org/10.1016/j.leukres.2018.03.009
https://doi.org/10.1016/j.leukres.2018.03.009
Autor:
Kyra Michalova, Jana Markova, Karla Svobodova, Lucie Hodanova, Anna Jonasova, Libuse Lizcova, Karolina Skipalova, Jaroslav Cermak, S Ransdorfova, I Sarova, Silvia Izakova, Jana Brezinova, Lenka Pavlistova, Zuzana Zemanova, Halka Lhotska
Publikováno v:
Neoplasma. 66(4)
Deletion 20q is a recurrent abnormality in myeloid malignancies. In our previous study, we identified fusion of the additional sex combs-like 1 (ASXL1) and teashirt zinc finger homeobox 2 genes in a patient with myelodysplastic syndrome. The objectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f4f33460e84221ae9e0aba52a7a705
https://pubmed.ncbi.nlm.nih.gov/30868899
https://pubmed.ncbi.nlm.nih.gov/30868899
Autor:
Anna Jonasova, Monika Belickova, Karolina Skipalova, Lenka Pavlistova, Karla Svobodova, Libuse Lizcova, Zuzana Zemanova, R. Neuwirtova, Sarka Ransdorfova, Halka Lhotska, M. Siskova, Jana Brezinova, Kyra Michalova, Silvia Izakova, Jaroslav Cermak, Tomas Stopka, Adela Berkova, Iveta Sarova
Publikováno v:
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a459699590b67e4cf7dad7812590bc12
https://doi.org/10.1016/s0145-2126(17)30203-5
https://doi.org/10.1016/s0145-2126(17)30203-5
Autor:
Monika Belickova, Kyra Michalova, Libuse Lizcova, R. Neuwirtova, Karolina Skipalova, Anna Jonasova, Jana Brezinova, Karla Svobodova, Silvia Izakova, Tomas Stopka, Halka Lhotska, Sarka Ransdorfova, Lenka Pavlistova, Zuzana Zemanova, Magda Siskova, Adela Berkova, Iveta Sarova, Jaroslav Cermak
Publikováno v:
ResearcherID
Introduction: Inmyelodysplastic syndromes (MDS) the karyotype is one of the most important predictor of disease advancement, response to the treatment and patients' outcome. Clonal cytogenetic abnormalities are detected in the bone marrow cells in ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58f2d8caba991ca4823582ff03943161
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000394452700174&KeyUID=WOS:000394452700174
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000394452700174&KeyUID=WOS:000394452700174