Resultats de la cerca - Begemann, Matthias

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 per 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

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Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation per 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

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