Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Anne Frühmesser"'
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
Autor:
Anya Blassnig-Ezeh, Birgit Krabichler, Marie Ravoet, Dieter Kotzot, Véronique Beauloye, Claude Bandelier, Burkhard Simma, Christine Fauth, Johannes Zschocke, Anne Frühmesser, Nicole Revencu
Publikováno v:
American journal of medical genetics. Part A, Vol. 161A, no. 12, p. 3176-3181 (2013)
Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aaaf52c69a432b3ea1466ff6798b66e
https://hdl.handle.net/2078.1/143245
https://hdl.handle.net/2078.1/143245
Autor:
Martina Witsch-Baumgartner, Germar-Michael Pinggera, Christine Fauth, Dieter Kotzot, J. Zimmer, Peter H. Vogt, Anne Frühmesser, Johannes Zschocke
Publikováno v:
Fertility and sterility. 100(1)
Objective To identify copy number variations (CNVs) as a hint toward genes relevant for spermatogenesis and related to male factor infertility. Design Analysis of genomic DNA with high resolution Illumina SNP arrays (HumanOmni1-Quad Bead Chip). Sange
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9325624577b4b13cda7536e3497cf33
https://pubmed.ncbi.nlm.nih.gov/23579007
https://pubmed.ncbi.nlm.nih.gov/23579007
Autor:
S Moshir, Katharina Wimmer, Kevin Rostasy, Anne Frühmesser, Birgit Krabichler, Dieter Kotzot, Kurt Gautsch, Christine Fauth, I Laimer
Publikováno v:
Clinical genetics. 83(3)
Rostasy K, Fauth C, Gautsch K, Laimer I, Krabichler B, Wimmer K, Fruhmesser A, Kotzot D, Moshir S. Modification of risk for cancer as a coincidental finding in DNA array investigation. The high resolution of modern DNA arrays has the implification of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fabcd52d0c55677f9ff33a1cbfed4b92
https://pubmed.ncbi.nlm.nih.gov/22428932
https://pubmed.ncbi.nlm.nih.gov/22428932
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:
Blassnig‐Ezeh, Anya, Bandelier, Claude, Frühmesser, Anne, Revencu, Nicole, Krabichler, Birgit, Beauloye, Véronique, Ravoet, Marie, Fauth, Christine, Zschocke, Johannes, Simma, Burkhard, Kotzot, Dieter
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2013, Vol. 161A Issue 12, p3176-3181, 6p