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28 results for Mrasek,+Kristin

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Select record 21
ArticlesPeer ReviewedFull Text
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
Author / Creator:Aktas, Dilek ; Utine, Eda G ; Mrasek, Kristin ; Weise, Anja ; von Eggeling, Ferdinand ; Yalaz, Kalbiye ; Posorski, Nicole ; Akarsu, Nurten ; Alikasifoglu, Mehmet ; Liehr, Thomas ; Tuncbilek, Ergul
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2010-05, Vol.3 (1), p.10-10
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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
Author / Creator:Liehr, Thomas ; Mrasek, Kristin ; Kosyakova, Nadezda ; Ogilvie, Caroline ; Vermeesch, Joris ; Trifonov, Vladimir ; Rubtsov, Nikolai
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2008-06, Vol.1 (1), p.12-12
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Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Author / Creator:Aktas, Dilek ; Weise, Anja ; Utine, Eda ; Alehan, Dursun ; Mrasek, Kristin ; von Eggeling, Ferdinand ; Thieme, Heike ; Tuncbilek, Ergul ; Liehr, Thomas
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2009-06, Vol.2 (1), p.14-14
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Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?
Author / Creator:Othman, Moneeb ; Lier, Amelie ; Junker, Susann ; Kempf, Philipp ; Dorka, Franziska ; Gebhart, Erich ; Sheth, Frenny ; Grygalewicz, Beata ; Bhatt, Samarth ; Weise, Anja ; Mrasek, Kristin ; Liehr, Thomas ; Manvelyan, Marina
Publisher:Sofia: Pensoft Publishers
Journal title:Biodiscovery, 2012-10, Vol.4, p.1-5
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Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance
Author / Creator:Kadioglu, Onat ; Cao, Jingming ; Kosyakova, Nadezda ; Mrasek, Kristin ; Liehr, Thomas ; Efferth, Thomas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-11, Vol.6 (1), p.36754-36754, Article 36754
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Multicolor FISH methods in current clinical diagnostics
Author / Creator:Liehr, Thomas ; Weise, Anja ; Hamid, Ahmed B ; Fan, Xiaobo ; Klein, Elisabeth ; Aust, Nadine ; Othman, Moneeb AK ; Mrasek, Kristin ; Kosyakova, Nadezda
Publisher:England: Taylor & Francis
Journal title:Expert review of molecular diagnostics, 2013-04, Vol.13 (3), p.251-255
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Comprehensive Analyses of White-Handed Gibbon Chromosomes Enables Access to 92 Evolutionary Conserved Breakpoints Compared to the Human Genome
Author / Creator:Weise, Anja ; Kosyakova, Nadezda ; Voigt, Martin ; Aust, Nadine ; Mrasek, Kristin ; Löhmer, Sharon ; Rubtsov, Nikolai ; Karamysheva, Tatyana V. ; Trifonov, Vladimir A. ; Hardekopf, David ; Jančušková, Tereza ; Pekova, Sona ; Wilhelm, Kathleen ; Liehr, Thomas ; Fan, Xiaobo
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2015-01, Vol.145 (1), p.42-49
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First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease
Author / Creator:Filipović, Jelena ; Joksić, Gordana ; Vujić, Dragana ; Joksić, Ivana ; Mrasek, Kristin ; Weise, Anja ; Liehr, Thomas
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2016-09, Vol.9 (1), p.70-70, Article 70
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Loss of chromosome 4 correlates with better long-term survival and lower relapse rate after R0-resection of colorectal liver metastases
Author / Creator:Aust, Nadine ; Schüle, Silke ; Altendorf-Hofmann, Annelore K. ; Chen, Yuan ; Knösel, Thomas ; Dirsch, Olaf ; Settmacher, Utz ; Weise, Anja ; Mrasek, Kristin ; Liehr, Thomas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of cancer research and clinical oncology, 2013-11, Vol.139 (11), p.1861-1867
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Loss of chromosome 4 correlates with better long-term survival and lower relapse rate after RO-resection of colorectal liver metastases
Author / Creator:AUST, Nadine ; SCHÜLE, Silke ; ALTENDORF-HOFMANN, Annelore K ; YUAN CHEN ; KNÖSEL, Thomas ; DIRSCH, Olaf ; SETTMACHER, Utz ; WEISE, Anja ; MRASEK, Kristin ; LIEHR, Thomas
Publisher:Heidelberg: Springer
Journal title:Journal of cancer research and clinical oncology, 2013, Vol.139 (11), p.1861-1867
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Select record 31
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Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies
Author / Creator:Roos, Andreas ; von Kaisenberg, Constantin S. ; Eggermann, Thomas ; Schwanitz, Gesa ; Löffler, Christine ; Weise, Anja ; Mrasek, Kristin ; Junge, Annelore ; Caliebe, Almuth ; Belitz, Britta ; Kautza, Monika ; Schüler, Herdit ; Zerres, Klaus ; Heidemann, Simone
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of gynecology and obstetrics, 2013-11, Vol.288 (5), p.1153-1158
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Select record 32
ArticlesPeer ReviewedFull Text
Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis
Author / Creator:Bhatt, S.S. ; Manvelyan, M. ; Moradkhani, K. ; Hunstig, F. ; Mrasek, K. ; Puechberty, J. ; Lefort, G. ; Sarda, P. ; Weise, A. ; Liehr, T. ; Pellestor, F.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2014-01, Vol.142 (2), p.145-149
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Select record 33
ArticlesPeer ReviewedFull Text
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions
Author / Creator:Bhatt, Samarth ; Moradkhani, Kamran ; Mrasek, Kristin ; Puechberty, Jacques ; Manvelyan, Marina ; Hunstig, Friederike ; Lefort, Genevieve ; Weise, Anja ; Lespinasse, James ; Sarda, Pierre ; Liehr, Thomas ; Hamamah, Samir ; Pellestor, Franck
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.44-50
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Select record 34
ArticlesPeer ReviewedFull Text
How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set
Author / Creator:Hamid, Ahmed B ; Kreskowski, Katharina ; Weise, Anja ; Kosayakova, Nadezda ; Mrasek, Kristin ; Voigt, Martin ; Guilherme, Roberta Santos ; Wagner, Rebecca ; Hardekopf, David ; Pekova, Sona ; Karamysheva, Tatyana ; Liehr, Thomas ; Klein, Elisabeth
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of applied genetics, 2012-08, Vol.53 (3), p.259-269
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Select record 35
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Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1–11.2;p13.3)
Author / Creator:Balci, Sevim ; Unal, Aysun ; Engiz, Ozlem ; Aktas, Dilek ; Liehr, Thomas ; Gross, Madelaine ; Mrasek, Kristin ; Saygi, Serap
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2007-03, Vol.49 (3), p.219-224
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Select record 36
ArticlesPeer ReviewedFull Text
Small supernumerary marker chromosomes
Author / Creator:Starke, Heike ; Nietzel, Angela ; Weise, Anja ; Heller, Anita ; Mrasek, Kristin ; Belitz, Britta ; Kelbova, Christine
Publisher:Springer
Journal title:Human genetics, 2003-12, Vol.114 (1), p.51
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Select record 37
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Small supernumerary marker chromosomes (SMCs): fenotype-phenotype correlation and classification
Author / Creator:STARKE, Heike ; NIETZEL, Angela ; TRAPPE, Ralf ; BARTELS, Iris ; ADOLPH, Sabine ; DUFKE, Andreas ; SINGER, Sylke ; STUMM, Markus ; WEGNER, Rolf-Dieter ; SEIDEL, Jörg ; SCHMIDT, Angela ; KUECHLER, Alma ; WEISE, Anja ; SCHREYER, Isolde ; CLAUSSEN, Uwe ; VON EGGELING, Ferdinand ; LIEHR, Thomas ; HELLER, Anita ; MRASEK, Kristin ; BELITZ, Britta ; KELBOVA, Christine ; VOLLETH, Marianne ; ALBRECHT, Beate ; MITULLA, Beate
Publisher:Berlin: Springer
Journal title:Human genetics, 2003, Vol.114 (1), p.51-67
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Select record 38
ReviewsPeer ReviewedFull Text
Common Fragile Sites: Genomic Hotspots of DNA Damage and Carcinogenesis
Author / Creator:Ma, Ke ; Qiu, Li ; Mrasek, Kristin ; Zhang, Jun ; Liehr, Thomas ; Quintana, Luciana Gonçalves ; Li, Zheng
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2012, Vol.13 (9), p.11974-11999
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Showing 21 to 40 of 28 results

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Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

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Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

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Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?

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Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance

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Multicolor FISH methods in current clinical diagnostics

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Comprehensive Analyses of White-Handed Gibbon Chromosomes Enables Access to 92 Evolutionary Conserved Breakpoints Compared to the Human Genome

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First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

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Loss of chromosome 4 correlates with better long-term survival and lower relapse rate after R0-resection of colorectal liver metastases

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Loss of chromosome 4 correlates with better long-term survival and lower relapse rate after RO-resection of colorectal liver metastases

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Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

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Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis

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Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

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How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

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Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1–11.2;p13.3)

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Small supernumerary marker chromosomes

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Small supernumerary marker chromosomes (SMCs): fenotype-phenotype correlation and classification

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Common Fragile Sites: Genomic Hotspots of DNA Damage and Carcinogenesis

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