Deciphering the evolutionary origin of the RB1 imprint

por Kanber, Deniz, Roos, Christian, Gromoll, Jörg, Horsthemke, Bernhard, Lohmann, Dietmar, Buiting, Karin
Publicado 2013

Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1

por Steenpass, Laura, Kanber, Deniz, Hiber, Michaela, Buiting, Karin, Horsthemke, Bernhard, Lohmann, Dietmar
Publicado 2013

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

por Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra
Publicado 2021

The Origin of the RB1 Imprint

por Kanber, Deniz, Buiting, Karin, Roos, Christian, Gromoll, Jörg, Kaya, Sabine, Horsthemke, Bernhard, Lohmann, Dietmar
Publicado 2013

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

por Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Publicado 2019

Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse

por Rademacher, Katrin, Schröder, Christopher, Kanber, Deniz, Klein-Hitpass, Ludger, Wallner, Stefan, Zeschnigk, Michael, Horsthemke, Bernhard
Publicado 2014

The Human Retinoblastoma Gene Is Imprinted

por Kanber, Deniz, Berulava, Tea, Ammerpohl, Ole, Mitter, Diana, Richter, Julia, Siebert, Reiner, Horsthemke, Bernhard, Lohmann, Dietmar, Buiting, Karin
Publicado 2009

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

por Dittner-Moormann, Sabine, Reschke, Madlen, Biewald, Eva, Kuechler, Alma, Klein, Barbara, Timmermann, Beate, Lohmann, Dietmar, Ketteler, Petra, Kanber, Deniz
Publicado 2020

RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation

por Kanber, Deniz, Woestefeld, Julia, Döpper, Hannah, Bozet, Morgane, Brenzel, Alexandra, Altmüller, Janine, Kilpert, Fabian, Lohmann, Dietmar, Pommerenke, Claudia, Steenpass, Laura
Publicado 2022

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
Publicado 2017

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

por Fryssira, Helen, Amenta, Stella, Kanber, Deniz, Sofocleous, Christalena, Lykopoulou, Evangelia, Kanaka-Gantenbein, Christina, Cerrato, Flavia, Lüdecke, Hermann-Josef, Bens, Susanne, Riccio, Andrea, Buiting, Karin
Publicado 2015

TFF1 in Aqueous Humor—A Potential New Biomarker for Retinoblastoma

por Busch, Maike Anna, Haase, André, Miroschnikov, Natalia, Doege, Annika, Biewald, Eva, Bechrakis, Nikolaos E., Beier, Manfred, Kanber, Deniz, Lohmann, Dietmar, Metz, Klaus, Dünker, Nicole
Publicado 2022

Evidence for correlations between BMI-associated SNPs and circRNAs

por 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
Publicado 2022

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

por Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan
Publicado 2021