Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Ewers Elisabeth"'
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
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
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
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
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
Autor:
Sheth, Frenny, Andrieux, Joris, Ewers, Elisabeth, Kosyakova, Nadezda, Weise, Anja, Sheth, Harsh, Romana, Serge-Pierrick, LeLorc’h, Marc, Delobel, Bruno, Theisen, Olivier, Liehr, Thomas, Nampoothiri, Sheela, Sheth, Jayesh
Publikováno v:
In European Journal of Medical Genetics May-June 2011 54(3):247-255
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
https://www.bib.irb.hr/461573
Autor:
Kraoua, Lilia, Chaabouni, Myriam, Ewers, Elisabeth, Chelly, Imen, Ouertani, Ines, Ben Jemaa, Lamia, Maazoul, Faouzi, Liehr, Thomas, Chaabouni, Habiba
Publikováno v:
In European Journal of Medical Genetics July-August 2011 54(4):e446-e450
Autor:
Liehr, Thomas, Wegner, Rolf-Dieter, Stumm, Markus, Martin, Thomas, Gillessen-Kaesbach, Gabriele, Kosyakova, Nadezda, Ewers, Elisabeth, Hamid, Ahmed Basheer, von Eggeling, Ferdinand, Hentschel, Julia, Ziegler, Monika, Weise, Anja
Publikováno v:
In Journal of the Chinese Medical Association 2010 73(4):205-207
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