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pro vyhledávání: '"Luisa Person"'
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
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Infertility: The origin of a Y-chromosome abnormality Researchers in Germany have clarified the origin of an abnormality in the Y-chromosome linked with infertility. Some chromosome regions are susceptible to variation, such as translocation with seg
Externí odkaz:
https://doaj.org/article/a98b9f126ec04095ba30de02c82df44e
Publikováno v:
Current Protocols. 2
Interphase or metaphase nuclei can be accessed in molecular cytogenetic analyses. Metaphase spreads are routinely studied by fluorescence in situ hybridization (FISH) to answer clinical genetic questions. Even though metaphase quality is essential fo
Autor:
Niklas Padutsch, Stefanie Kankel, Seria Tsan, Ahmed Al-Rikabi, Kristin Mrasek, Anja Weise, Luisa Person, Monika Ziegler, T Liehr
Publikováno v:
OBM Genetics. :1-1
Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hostin