Zobrazeno 1 - 8
of 8
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