Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Zuzana Slamova"'
Autor:
Zdenek Sedlacek, Drahuse Novotna, Zuzana Slamova, Zuzana Zemanova, Mana M. Mehrjouy, Tatana Marikova, Lusine Nazaryan-Petersen, Zdenka Vlckova, Miroslava Hancarova, Jana Drabova, Mads Bak, Niels Tommerup, Marketa Vlckova
Publikováno v:
Human mutation. 39(5)
Analyses at nucleotide resolution reveal unexpected complexity of seemingly simple and balanced chromosomal rearrangements. Chromothripsis is a rare complex aberration involving local shattering of one or more chromosomes and reassembly of the result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a45785dd3adf1d8f966606d4b1b721
https://pubmed.ncbi.nlm.nih.gov/29405539
https://pubmed.ncbi.nlm.nih.gov/29405539
Autor:
Ants Kurg, Katrin Männik, Marketa Vlckova, Monika Koudova, Zdenek Sedlacek, Zuzana Slamova, Renata Alanova, Miroslava Hancarova, Jana Drabova
Publikováno v:
Twin Research and Human Genetics
Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245240e06ff5915a57ae1b35c32ead0f
https://pubmed.ncbi.nlm.nih.gov/24909117
https://pubmed.ncbi.nlm.nih.gov/24909117
Autor:
Lucie Tosca, Corinne Metay, Petra Dusatkova, Audrey Briand-Suleau, Gérard Tachdjian, Zdenek Sedlacek, Philippe Labrune, Zuzana Slamova, Jan Lebl, Elsa Zemankova, Sophie Brisset, Zdenek Sumnik, Michel Goossens, Martina Simandlova, Karen Milcent
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, BioMed Central, 2014, 7 (1), pp.17. ⟨10.1186/1755-8166-7-17⟩
Molecular Cytogenetics, BioMed Central, 2014, 7 (1), pp.17. ⟨10.1186/1755-8166-7-17⟩
International audience; BACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b5930361eba20825ee0c0217cb611b