Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Christine Kelbova"'
Autor:
J. Seidel, Sylke Singer, Alma Kuechler, Angela Schmidt, Sabine Adolph, Beate Mitulla, Uwe Claussen, Beate Albrecht, Heike Starke, Thomas Liehr, Angela Nietzel, Ferdinand von Eggeling, Anita Heller, Isolde Schreyer, Britta Belitz, Rolf-Dieter Wegner, Ralf Trappe, Marianne Volleth, Christine Kelbova, Andreas Dufke, Markus Stumm, Iris Bartels, Kristin Mrasek, Anja Weise
Publikováno v:
Human genetics. 114(1)
Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the approximately 60% SMC derived from one of the acrocentric chromosomes), an abnormal phenotype is obs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ab83bd2bdc132860af6bb4f7a776f8
https://pubmed.ncbi.nlm.nih.gov/13680362
https://pubmed.ncbi.nlm.nih.gov/13680362
Autor:
Markus Stumm, Christine Behrend, Heike Starke, Sylvia Reichardt, Wolfram Henn, Marianne Volleth, Thomas Liehr, Klaus R Sandig, Gabriele Senger, J. Seidel, Uwe Claussen, Beate Albrecht, Christine Kelbova, Anita Heller, Ingo Hansmann
Publikováno v:
European journal of human genetics : EJHG. 10(12)
A thorough study of the heterochromatin organisation in the pericentromeric region and the proximal long (q) and short (p) arms of human chromosome 9 (HSA 9) revealed homology between 9p12 and 9q13-21.1, two regions that are usually not distinguishab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7656db6e91658ee6a17074c113f5f92c
https://pubmed.ncbi.nlm.nih.gov/12461685
https://pubmed.ncbi.nlm.nih.gov/12461685
Autor:
Claudia Backsch, Andreas Dufke, M. Döbler-Neumann, Martin Schöning, Herbert Enders, Thomas Liehr, Volkmar Beensen, J. Seidel, Christine Kelbova, U. Klein-Vogler
Publikováno v:
Cytogenetics and cell genetics. 91(1-4)
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS cri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7de62159f0f3caa79e613261c10b1a5
https://pubmed.ncbi.nlm.nih.gov/11173835
https://pubmed.ncbi.nlm.nih.gov/11173835