Torthaí cuardaigh - 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 de réir Eggermann, Thomas, Begemann, Matthias, Pfeiffer, Lutz

    Foilsithe / Cruthaithe 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 de réir Eggermann, Thomas, Begemann, Matthias, Binder, Gerhard, Spengler, Sabrina

    Foilsithe / Cruthaithe 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 de réir Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam

    Foilsithe / Cruthaithe 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 de réir Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth

    Foilsithe / Cruthaithe 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 de réir Eggermann, Thomas, Ledig, Susanne, Begemann, Matthias, Elbracht, Miriam, Kurth, Ingo, Wieacker, Peter

    Foilsithe / Cruthaithe 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 de réir Kraft, Florian, Wesseler, Katharina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Soellner, Lukas, Spengler, Sabrina, Begemann, Matthias, Wollmann, Hartmut A., Binder, Gerhard, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Soellner, Lukas, Kraft, Florian, Sauer, Sabrina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Li, Zhijian, Schulz, Marcel H., Look, Thomas, Begemann, Matthias, Zenke, Martin, Costa, Ivan G.

    Foilsithe / Cruthaithe 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 de réir Weinmann, Stefan, Schwarzbach, Christoph, Begemann, Matthias, Roll, Stephanie, Vauth, Christoph, Willich, Stefan N., Greiner, Wolfgang

    Foilsithe / Cruthaithe 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 de réir Gogiel, Magdalena, Begemann, Matthias, Spengler, Sabrina, Soellner, Lukas, Göretzlehner, Ulf, Eggermann, Thomas, Strobl-Wildemann, Gertrud

    Foilsithe / Cruthaithe 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 de réir Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias

    Foilsithe / Cruthaithe 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 de réir Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

    Foilsithe / Cruthaithe 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 de réir Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias

    Foilsithe / Cruthaithe 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? de réir Eggermann, Thomas, Oehl‐Jaschkowitz, Barbara, Dicks, Severin, Thomas, Wolfgang, Kanber, Deniz, Albrecht, Beate, Begemann, Matthias, Kurth, Ingo, Beygo, Jasmin, Buiting, Karin

    Foilsithe / Cruthaithe 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 de réir Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute

    Foilsithe / Cruthaithe 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 de réir 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

    Foilsithe / Cruthaithe 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 de réir 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

    Foilsithe / Cruthaithe 2016
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