Søgeresultater - Begemann, Matthias

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  1. 1
    Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

    Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains af Eggermann, Thomas, Begemann, Matthias, Pfeiffer, Lutz

    Udgivet 2021
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  2. 2
    Silver-Russell syndrome: genetic basis and molecular genetic testing

    Silver-Russell syndrome: genetic basis and molecular genetic testing af Eggermann, Thomas, Begemann, Matthias, Binder, Gerhard, Spengler, Sabrina

    Udgivet 2010
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  3. 3
    Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

    Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family af Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam

    Udgivet 2020
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  4. 4
    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring af Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth

    Udgivet 2017
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  5. 5
    Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

    Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients af Eggermann, Thomas, Ledig, Susanne, Begemann, Matthias, Elbracht, Miriam, Kurth, Ingo, Wieacker, Peter

    Udgivet 2018
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  6. 6
    Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

    Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation af Kraft, Florian, Wesseler, Katharina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas

    Udgivet 2019
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  7. 7
    IGF1R mutation analysis in short children with Silver-Russell syndrome features

    IGF1R mutation analysis in short children with Silver-Russell syndrome features af Soellner, Lukas, Spengler, Sabrina, Begemann, Matthias, Wollmann, Hartmut A., Binder, Gerhard, Eggermann, Thomas

    Udgivet 2013
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  8. 8
    Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

    Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers af Soellner, Lukas, Kraft, Florian, Sauer, Sabrina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas

    Udgivet 2018
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  9. 9
    Identification of transcription factor binding sites using ATAC-seq

    Identification of transcription factor binding sites using ATAC-seq af Li, Zhijian, Schulz, Marcel H., Look, Thomas, Begemann, Matthias, Zenke, Martin, Costa, Ivan G.

    Udgivet 2019
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  10. 10
    Behavioural and skill-based early interventions in children with autism spectrum disorders

    Behavioural and skill-based early interventions in children with autism spectrum disorders af Weinmann, Stefan, Schwarzbach, Christoph, Begemann, Matthias, Roll, Stephanie, Vauth, Christoph, Willich, Stefan N., Greiner, Wolfgang

    Udgivet 2009
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  11. 11
    Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

    Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour af Gogiel, Magdalena, Begemann, Matthias, Spengler, Sabrina, Soellner, Lukas, Göretzlehner, Ulf, Eggermann, Thomas, Strobl-Wildemann, Gertrud

    Udgivet 2013
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  12. 12
    Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

    Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome af Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias

    Udgivet 2020
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  13. 13
    Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

    Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes af Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas

    Udgivet 2016
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  14. 14
    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature af Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas

    Udgivet 2012
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  15. 15
    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction af Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

    Udgivet 2017
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  16. 16
    Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

    Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important af Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias

    Udgivet 2020
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  17. 17
    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism? af Eggermann, Thomas, Oehl‐Jaschkowitz, Barbara, Dicks, Severin, Thomas, Wolfgang, Kanber, Deniz, Albrecht, Beate, Begemann, Matthias, Kurth, Ingo, Beygo, Jasmin, Buiting, Karin

    Udgivet 2017
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  18. 18
    Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

    Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures af Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute

    Udgivet 2018
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  19. 19
    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 af Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel, Begemann, Matthias, Kanber, Deniz, Platzer, Konrad, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew, Heller, Raoul, Buiting, Karin, Eggermann, Thomas

    Udgivet 2015
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  20. 20
    Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

    Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation af Bohne, Florian, Langer, David, Martiné, Ursula, Eider, Claudia S., Cencic, Regina, Begemann, Matthias, Elbracht, Miriam, Bülow, Luzie, Eggermann, Thomas, Zechner, Ulrich, Pelletier, Jerry, Zabel, Bernhard Ulrich, Enklaar, Thorsten, Prawitt, Dirk

    Udgivet 2016
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