Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Frühmesser, A"'
Autor:
Frühmesser, Anne, Vogt, Peter H., Zimmer, Jutta, Witsch-Baumgartner, Martina, Fauth, Christine, Zschocke, Johannes, Pinggera, Germar-Michael, Kotzot, Dieter
Publikováno v:
In Fertility and Sterility July 2013 100(1):81-87
Autor:
Frühmesser, Thomas
Publikováno v:
Zeitschrift für Siebenbürgische Landeskunde / Journal for Transylvanian Studies. XXIX(1):127-128
Externí odkaz:
https://www.ceeol.com/search/article-detail?id=79308
Autor:
Frühmesser, Anne1, Blake, Jonathon2, Haberlandt, Edda3, Baying, Bianka2, Raeder, Benjamin4, Runz, Heiko5, Spreiz, Ana1, Fauth, Christine1, Benes, Vladimir2, Utermann, Gerd1, Zschocke, Johannes1, Kotzot, Dieter1
Publikováno v:
European Journal of Human Genetics. Oct2013, Vol. 21 Issue 10, p1177-1180. 4p.
Autor:
Gehrke, Helge1 (AUTHOR), Frühmesser, Anne2 (AUTHOR), Pelka, Joanna1 (AUTHOR), Esselen, Melanie2 (AUTHOR), Hecht, Lena L.3 (AUTHOR), Blank, Holger4 (AUTHOR), Schuchmann, Heike P.3 (AUTHOR), Gerthsen, Dagmar4 (AUTHOR), Marquardt, Clarissa5 (AUTHOR), Diabaté, Silvia5 (AUTHOR), Weiss, Carsten5 (AUTHOR), Marko, Doris1 (AUTHOR) doris.marko@univie.ac.at
Publikováno v:
Nanotoxicology. May2013, Vol. 7 Issue 3, p274-293. 20p.
Autor:
Frühmesser1, Kotzot1
Publikováno v:
Sexual Development. Jun2011, Vol. 5 Issue 3, p109-123. 15p.
Autor:
Gerd Utermann, Dieter Kotzot, Albert Amberger, Johannes Zschocke, Martin Erdel, Hans-Christoph Duba, Christine Fauth, Anne Frühmesser
Publikováno v:
European Journal of Medical Genetics. 56:383-388
De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, gl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a256a8b53c9b415b446e8d9a41d246
https://doi.org/10.1016/j.ejmg.2013.04.003
https://doi.org/10.1016/j.ejmg.2013.04.003
Autor:
Bianka Baying, Jonathon Blake, Dieter Kotzot, Gerd Utermann, Edda Haberlandt, Ana Spreiz, Christine Fauth, Vladimir Benes, Heiko Runz, Johannes Zschocke, Anne Frühmesser, Benjamin Raeder
Publikováno v:
European Journal of Human Genetics. 21:1177-1180
Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a1f59eacae6368787ecccd7c1e49365
https://doi.org/10.1038/ejhg.2013.18
https://doi.org/10.1038/ejhg.2013.18
Autor:
Johannes Zschocke, Martin Erdel, Dieter Kotzot, Edda Haberlandt, Barbara Utermann, W. Judmaier, Albert Schinzel, Christine Fauth, Anne Frühmesser, Gerd Utermann
Publikováno v:
American Journal of Medical Genetics Part A. :2239-2244
Exact breakpoint determination by DNA-array has dramatically improved the analysis of genotype-phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972ae24451435b843288fc53a637d2f3
https://doi.org/10.1002/ajmg.a.35450
https://doi.org/10.1002/ajmg.a.35450
Autor:
Silvia Diabaté, Joanna Pelka, Doris Marko, Anne Frühmesser, H. Blank, Heike P. Schuchmann, Helge Gehrke, Clarissa Marquardt, Carsten Weiss, Dagmar Gerthsen, Lena L. Hecht, Melanie Esselen
Publikováno v:
Nanotoxicology. 7:274-293
The use of nanostructured silica (SiO2) particles is no longer restricted to biomedical and (bio-) technological fields but rather finding applications in products of the food industry. Thus, our studies on the toxicological relevance of SiO2 nanopar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41798e879e544f4511237e8488418e41
https://doi.org/10.3109/17435390.2011.652207
https://doi.org/10.3109/17435390.2011.652207
Autor:
Anne Frühmesser, Dieter Kotzot, Sylke Singer, Johannes Zschocke, V. Grossmann, Andreas Dufke, Andreas Tzschach, Olaf Rittinger, Ana Spreiz, Martin Erdel, Martina Höckner, Gerd Utermann, Vera M. Kalscheuer, Christine Fauth
Publikováno v:
Cytogenetics and Genome Research
De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de1f0bd34730445566945e9d29b9501
https://doi.org/10.1159/000337923
https://doi.org/10.1159/000337923