Resultados de procura - Begemann, Matthias

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso