Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Monika, Ziegler"'
Autor:
Thomas Liehr, Monika Ziegler, Luisa Person, Stefanie Kankel, Niklas Padutsch, Anja Weise, Jörg Paul Weimer, Heather Williams, Susana Ferreira, Joana B. Melo, Isabel M. Carreira
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition.Methods: Herein, we present a review of reported sSMC
Externí odkaz:
https://doaj.org/article/18e0494b5c624d958fdfaeebadfbd3f7
Autor:
Thomas Liehr, Heather E. Williams, Monika Ziegler, Stefanie Kankel, Niklas Padutsch, Ahmed Al-Rikabi
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes, and most contain a normal cent
Externí odkaz:
https://doaj.org/article/b663805bb8914d24a45f4382bd8ceb26
Autor:
Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a s
Externí odkaz:
https://doaj.org/article/2f1d056e4fde486589670468907f3f98
Autor:
Thomas Liehr, Anja Weise, Kristin Mrasek, Monika Ziegler, Niklas Padutsch, Kathleen Wilhelm, Ahmed Al-Rikabi
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplic
Externí odkaz:
https://doaj.org/article/10a5cf74b6434e68a22d746fb7ba199a
Autor:
Pavlina Iliopoulou, Efstathios Tsitsopoulos, Ioannis Papaevripidou, Voula Velissariou, Dagmar Huhle, Maria Syrrou, Rozalia Neroutsou, Angelos Alexandrou, Stamatia-Maria Rapti, Monika Ziegler, Ludmila Kousoulidou, Marianna Robola, Sigrid Fuchs, Maja Hempel, Carolina Sismani, Athina Theodosiou, Max Duesberg, Magdalini Lagou, Thomas Liehr, Anastasia Spring
Publikováno v:
Journal of Human Genetics. 65:783-795
Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d213c2d472a1a49c49486436b8d785
https://doi.org/10.1038/s10038-020-0769-z
https://doi.org/10.1038/s10038-020-0769-z
Autor:
Thomas, Liehr, Heather E, Williams, Monika, Ziegler, Stefanie, Kankel, Niklas, Padutsch, Ahmed, Al-Rikabi
Publikováno v:
Molecular Cytogenetics
Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes, and most contain a normal centromeric r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4d9b17ef0fd1a1f80f840d5b22b54d5d
https://pubmed.ncbi.nlm.nih.gov/33632263
https://pubmed.ncbi.nlm.nih.gov/33632263
Autor:
Monika Ziegler, Pritti K Priya, Hetvi Patel, Thomas Liehr, Vineet V Mishra, Stuti Tiwari, Alpesh Patel, Shiva Shankar Chettiar
Publikováno v:
Journal of Assisted Reproduction and Genetics. 35:721-725
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd01b5d0a40d003e33a73fd6634f63c
https://doi.org/10.1007/s10815-018-1117-5
https://doi.org/10.1007/s10815-018-1117-5
Autor:
Monika Ziegler, Thomas Liehr, Abdulsamad Wafa, Abdulmunim Aljapawe, Suher Almedani, Walid Al Achkar
Publikováno v:
Gene Reports. 8:79-83
Background Splenic marginal zone lymphoma (SMZL) is an extremely rare low-grade malignancy of the B-cells, comprising The pathogenesis of SMZL still remains unclear. Approximately 70–80% of cases have been reported to exhibit detectable cytogenetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e017054dbb73208aad3396d273869bb
https://doi.org/10.1016/j.genrep.2017.05.008
https://doi.org/10.1016/j.genrep.2017.05.008
Autor:
Monika Ziegler, Thomas Liehr, A Louis, M Donat, Katharina Kreskowski, Isolde Schreyer, Anja Weise
Publikováno v:
Balkan Journal of Medical Genetics, Vol 20, Iss 1, Pp 87-90 (2017)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3ad9f477a458c9ee9e73ad8c60629d
https://doi.org/10.1515/bjmg-2017-0012
https://doi.org/10.1515/bjmg-2017-0012
Autor:
Moneeb A.K. Othman, Anja Weise, Orlando Guntinas‑Lichius, Isabel M. Carreria, Thomas Liehr, Jovanna Thielker, Monika Ziegler, Ferdinand von Eggeling, Joana B. Melo
Publikováno v:
Oncology Letters
Pleomorphic adenomas (PAs) of salivary glands are the most frequent entity of solid parotid tumors. Nonetheless, their genetics is not yet well understood. Thus, the current study characterized 14 PAs using a unique combination of cytogenetic, molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a172a3b0e4d44c3287dd816de8890d8
https://pubmed.ncbi.nlm.nih.gov/31966040
https://pubmed.ncbi.nlm.nih.gov/31966040