Výsledky vyhledávání - "Ewers, Elisabeth"

Akademický článek

New cytogenetically visible copy number variant in region 8q21.2

Autor: Ewers Elisabeth, Schmidt Catharina, Reichenbach Herbert, Ramel Christian, Kelbova Christina, Kläs Rüdiger, Lancé Jeannette, Cremer Friedrich W, Manvelyan Marina, Kreskowski Katharina, Ziegler Monika, Kosyakova Nadezda, Liehr Thomas

Publikováno v: Molecular Cytogenetics, Vol 4, Iss 1, p 1 (2011)

Abstract Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. I

Externí odkaz: https://doaj.org/article/542610e77b3f459b866721ae64eba9c5

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Akademický článek

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

Autor: Hamid Ahmed B, Ewers Elisabeth, Plasencia Ana, Martínez-Frías María, Rodríguez Laura, Fernández-Toral Joaquín, Ziegler Monika, Liehr Thomas

Publikováno v: Journal of Medical Case Reports, Vol 4, Iss 1, p 239 (2010)

Abstract Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are

Externí odkaz: https://doaj.org/article/d038ade5a2bc411eb38f513937f50ab0

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Akademický článek

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Autor: Vermeesch Joris, Andrieux Joris, Desai Manisha, Sheth Jayesh, Weise Anja, Kosyakova Nadezda, Ewers Elisabeth, Sheth Frenny, Hamid Ahmed B, Ziegler Monika, Liehr Thomas

Publikováno v: Molecular Cytogenetics, Vol 2, Iss 1, p 22 (2009)

Abstract Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome ka

Externí odkaz: https://doaj.org/article/b7686302dc4c4624987736eb9c4b738e

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Akademický článek

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Autor: Garas Antonios, Weise Anja, Ewers Elisabeth, Kosyakova Nadezda, Kontodiou Maria, Anagnostopoulou Katerina, Lagou Magdalini, Manolakos Emmanouil, Kitsiou-Tzeli Sofia, Orru Sandro, Liehr Thomas, Metaxotou Aikaterini

Publikováno v: Molecular Cytogenetics, Vol 2, Iss 1, p 8 (2009)

Externí odkaz: https://doaj.org/article/752f0f94abd14369a0b74819797d42d0

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Akademický článek

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Autor: Mkrtchyan Hasmik, Kosyakova Nadezda, Gross Madeleine, Rodriguez Laura, Anderson Jasen, Nandini Adayapalam, Binkert Franz, Fluri Simon, Trifonov Vladimir, Ewers Elisabeth, Reich Daniela, Weise Anja, Liehr Thomas

Publikováno v: Molecular Cytogenetics, Vol 1, Iss 1, p 6 (2008)

Abstract Background Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape.

Externí odkaz: https://doaj.org/article/386f7b1ac7c4449cb6a91758e24198e6

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Low grade mosaicism in marker chromosomes

Autor: Liehr, Thomas, Ewers, Elisabeth, Mrasek, Kristin, Mkrtchyan, Hasmik, Kosyakova, Nadezda, Brecevic, Lukrecija, Wagner, Jasenka, Weise, Anja

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be thoroughly characterized by conventional banding cytogenetics and are equal in size or smaller than a chromosome 20. They are present in 0.075%of prena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::5cce38cd5bad91dca2981e59843f5200
https://www.bib.irb.hr/461573