Sökresultat - Kanber, Deniz

Low frequency of imprinting defects in ICSI children born small for gestational age av Kanber, Deniz, Buiting, Karin, Zeschnigk, Michael, Ludwig, Michael, Horsthemke, Bernhard

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Deciphering the evolutionary origin of the RB1 imprint av Kanber, Deniz, Roos, Christian, Gromoll, Jörg, Horsthemke, Bernhard, Lohmann, Dietmar, Buiting, Karin

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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1 av Steenpass, Laura, Kanber, Deniz, Hiber, Michaela, Buiting, Karin, Horsthemke, Bernhard, Lohmann, Dietmar

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Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma av Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra

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The Origin of the RB1 Imprint av Kanber, Deniz, Buiting, Karin, Roos, Christian, Gromoll, Jörg, Kaya, Sabine, Horsthemke, Bernhard, Lohmann, Dietmar

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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes av Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz

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Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse av Rademacher, Katrin, Schröder, Christopher, Kanber, Deniz, Klein-Hitpass, Ludger, Wallner, Stefan, Zeschnigk, Michael, Horsthemke, Bernhard

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Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment av Grothaus, Katrin, Kanber, Deniz, Gellhaus, Alexandra, Mikat, Barbara, Kolarova, Julia, Siebert, Reiner, Wieczorek, Dagmar, Horsthemke, Bernhard

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Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions av Mitter, Diana, Ullmann, Reinhard, Muradyan, Artur, Klein-Hitpaß, Ludger, Kanber, Deniz, Õunap, Katrin, Kaulisch, Marc, Lohmann, Dietmar

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The Human Retinoblastoma Gene Is Imprinted av Kanber, Deniz, Berulava, Tea, Ammerpohl, Ole, Mitter, Diana, Richter, Julia, Siebert, Reiner, Horsthemke, Bernhard, Lohmann, Dietmar, Buiting, Karin

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A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome av Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin

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Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14 av Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.

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Clinical utility gene card for: Prader-Willi Syndrome av Buiting, Karin, Cassidy, Suzanne B, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Tauber, Maithé, Schwinger, Eberhard, Horsthemke, Bernhard

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Clinical utility gene card for: Angelman Syndrome av Buiting, Karin, Clayton-Smith, Jill, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Schwinger, Eberhard, Williams, Charles, Horsthemke, Bernhard

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13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping av Dittner-Moormann, Sabine, Reschke, Madlen, Biewald, Eva, Kuechler, Alma, Klein, Barbara, Timmermann, Beate, Lohmann, Dietmar, Ketteler, Petra, Kanber, Deniz

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RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation av Kanber, Deniz, Woestefeld, Julia, Döpper, Hannah, Bozet, Morgane, Brenzel, Alexandra, Altmüller, Janine, Kilpert, Fabian, Lohmann, Dietmar, Pommerenke, Claudia, Steenpass, Laura

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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism? av 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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TFF1 in Aqueous Humor—A Potential New Biomarker for Retinoblastoma av Busch, Maike Anna, Haase, André, Miroschnikov, Natalia, Doege, Annika, Biewald, Eva, Bechrakis, Nikolaos E., Beier, Manfred, Kanber, Deniz, Lohmann, Dietmar, Metz, Klaus, Dünker, Nicole

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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 av 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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Evidence for correlations between BMI-associated SNPs and circRNAs av Rajcsanyi, Luisa Sophie, Diebels, Inga, Pastoors, Lydia, Kanber, Deniz, Peters, Triinu, Volckmar, Anna-Lena, Zheng, Yiran, Grosse, Martin, Dieterich, Christoph, Hebebrand, Johannes, Kaiser, Frank J., Horsthemke, Bernhard, Hinney, Anke

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