The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders von Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.

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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease von Traschütz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M., Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A., Sturm, Marc, Haack, Tobias B., Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P., Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A. Nazli, Synofzik, Matthis

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Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34 von Kehrer, M., Beckmann, A., Wyduba, J., Finckh, U., Dufke, A., Gaiser, U., Tzschach, A.

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Novel SLC9A6 mutations in two families with Christianson syndrome von Riess, A, Rossier, E, Krüger, R, Dufke, A, Beck-Woedl, S, Horber, V, Alber, M, Gläser, D, Riess, O, Tzschach, A

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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation von Liehr, T., Mrasek, K., Weise, A., Dufke, A., Rodríguez, L., Martínez Guardia, N., Sanchís, A., Vermeesch, J.R., Ramel, C., Polityko, A., Haas, O.A., Anderson, J., Claussen, U., von Eggeling, F., Starke, H.

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Dominant Transmission of Prepubertal Gynecomastia Due to Serum Estrone Excess: Hormonal, Biochemical, and Genetic Analysis in a Large Kindred von Binder, G., Iliev, D. I., Dufke, A., Wabitsch, M., Schweizer, R., Ranke, M. B., Schmidt, M.

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Specific transcriptional changes in human fetuses with autosomal trisomies von Altug-Teber, Ö., Bonin, M., Walter, M., Mau-Holzmann, U.A., Dufke, A., Stappert, H., Tekesin, I., Heilbronner, H., Nieselt, K., Riess, O.

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Human Ring Chromosomes - New Insights for their Clinical Significance von Guilherme, Rs, Klein, E, Hamid, Ab, Bhatt, S, Volleth, M, Polityko, A, Kulpanovich, A, Dufke, A, Albrecht, B, Morlot, S, Brecevic, L, Petersen, Mb, Manolakos, E, Kosyakova, N, Liehr, T

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations von Höckner, M., Spreiz, A., Frühmesser, A., Tzschach, A., Dufke, A., Rittinger, O., Kalscheuer, V., Singer, S., Erdel, M., Fauth, C., Grossmann, V., Utermann, G., Zschocke, J., Kotzot, D.

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Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome von Riess, A., Dufke, A., Riess, O., Beck-Woedl, S., Fode, B., Skladny, H., Klaes, R., Tzschach, A.

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Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant von Nguyen, H.P., Riess, A., Krüger, M., Bauer, P., Singer, S., Schneider, M., Enders, H., Dufke, A.

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Efficient in vitro generation of adult multipotent cells from mobilized peripheral blood CD133+ cells von Kuçi, S., Kuçi, Z., Schmid, S., Seitz, G., Müller, I., Dufke, A., Leimig, T., Murti, G., Jurecic, R., Schumm, M., Lang, P., Bruchelt, G., Bader, P., Klingebiel, T., Niethammer, D., Handgretinger, R.

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Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature von Liehr, T., Mrasek, K., Hinreiner, S., Reich, D., Ewers, E., Bartels, I., Seidel, J., Emmanuil, N., Petesen, M., Polityko, A., Dufke, A., Iourov, I., Trifonov, V., Vermeesch, J., Weise, A.

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A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24→1q22 and partial monosomy... von Grasshoff, U., Singer, S., Liehr, T., Starke, H., Fode, B., Schöning, M., Dufke, A.

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De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies von Dufke, A., Singer, S., Borell-Kost, S., Stötter, M., Pflumm, D.A., Mau-Holzmann, U.A., Starke, H., Mrasek, K., Enders, H.

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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification von Starke, Heike, Nietzel, Angela, Weise, Anja, Heller, Anita, Mrasek, Kristin, Belitz, Britta, Kelbova, Christine, Volleth, Marianne, Albrecht, Beate, Mitulla, Beate, Trappe, Ralf, Bartels, Iris, Adolph, Sabine, Dufke, Andreas, Singer, Sylke, Stumm, Markus, Wegner, Rolf-Dieter, Seidel, Jörg, Schmidt, Angela, Kuechler, Alma, Schreyer, Isolde, Claussen, Uwe, von Eggeling, Ferdinand, Liehr, Thomas

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Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23) von Dufke, A., Mayrhofer, H., Enders, H., Kaiser, P., Leipoldt, M.

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A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p) von Dufke, A., Eggermann, K., Balg, S., Stengel-Rutkowski, S., Enders, H., Kaiser, P.

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A rapid microarray based whole genome analysis for detection of uniparental disomy von Altug-Teber, Özge, Dufke, Andreas, Poths, Sven, Mau-Holzmann, Ulrike Angelika, Bastepe, Murat, Colleaux, Laurence, Cormier-Daire, Valérie, Eggermann, Thomas, Gillessen-Kaesbach, Gabriele, Bonin, Michael, Riess, Olaf

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Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy von Ranta, Susanna, Topcu, Meral, Tegelberg, Saara, Tan, Hüseyin, Üstübütün, Alp, Saatci, Isil, Dufke, Andreas, Enders, Herbert, Pohl, Keith, Alembik, Yves, Mitchell, Wayne A., Mole, Sara E., Lehesjoki, Anna‐Elina

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