Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Peter Küpferling"'
Autor:
A Polityko, Anja Weise, Marina Manvelyan, Dilek Aktas, Hans-Christoph Duba, Thomas Liehr, Franck Pellestor, Daniela Reich, Peter Küpferling, Bernt Schulze, Hanne Tittelbach, Ute Hehr, Marie-Luise Mazaurik, Elisabeth Gödde, Mònica Santos, Thomas Martin, Isolde Schreyer, Sigrid Köhler, Marianne Volleth, Gisela Reising-Ackermann, Carme Fuster, Britta Belitz, Elisabeth Ewers, Jasen Anderson, Andreas Dufke, Mariluce Riegel, Kristin Mrasek, Christina Kelbova
Publikováno v:
ResearcherID
Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b5f6d2769c959ecfadc2a02ae28a0f
https://doi.org/10.5167/uzh-57505
https://doi.org/10.5167/uzh-57505
Autor:
Kossakiewicz M, Höls-Herpertz I, Götz J, Hanne Tittelbach, Köhler S, Anja Weise, M.-L. Mazauric, Rolf-Dieter Wegner, Susann Neubauer, Iris Bartels, Britta Belitz, Isolde Schreyer, Ute Hehr, Niemann R, Peter Küpferling, Thomas Liehr, Dagmar Huhle, A Polityko, Süss F, Kristin Mrasek, Marina Manvelyan, Markus Stumm, Kunze H
Publikováno v:
International journal of molecular medicine. 19(6)
A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b9d19bba3079c7658104cbf1813501
https://pubmed.ncbi.nlm.nih.gov/17487417
https://pubmed.ncbi.nlm.nih.gov/17487417
Autor:
Christiane Bommer, Danuta Galetzka, Thomas Haaf, Ulrich Zechner, Angelika Daser, Christina Kelbova, Ruxandra Farcas, Peter Küpferling, Gundula Thiel, Ying Yue, Bärbel Grossmann
Publikováno v:
European journal of human genetics : EJHG. 15(5)
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f174f0c5004b78c1b640c398e5339d6e
https://pubmed.ncbi.nlm.nih.gov/17327879
https://pubmed.ncbi.nlm.nih.gov/17327879
Autor:
Sibylle Jakubiczka, Peter Wieacker, Bernhard Kunath, Ulrike Reuner, Wolfram Kress, Stefan Vielhaber, Peter Küpferling
Publikováno v:
Neurogenetics. 5(1)
Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45ac37cc5dd2ed4d5f8d1ee4f2af2d55
https://pubmed.ncbi.nlm.nih.gov/14666402
https://pubmed.ncbi.nlm.nih.gov/14666402