The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy von Horber, Veronka, Grasshoff, Ute, Sellier, Elodie, Arnaud, Catherine, Krägeloh-Mann, Ingeborg, Himmelmann, Kate

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

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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression von Zweier, Markus, Gregor, Anne, Zweier, Christiane, Engels, Hartmut, Sticht, Heinrich, Wohlleber, Eva, Bijlsma, Emilia K, Holder, Susan E, Zenker, Martin, Rossier, Eva, Grasshoff, Ute, Johnson, Diana S, Robertson, Lisa, Firth, Helen V, Ekici, Arif B, Reis, André, Rauch, Anita

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Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease von Synofzik, Matthis, Born, Christoph, Rominger, Axel, Lummel, Nina, Schöls, Ludger, Biskup, Saskia, Schüle, Cornelius, Grasshoff, Ute, Klopstock, Thomas, Adamczyk, Christopher

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Mapping translocation breakpoints by next-generation sequencing von Chen, Wei, Kalscheuer, Vera, Tzschach, Andreas, Menzel, Corinna, Ullmann, Reinhard, Schulz, Marcel Holger, Erdogan, Fikret, Li, Na, Kijas, Zofia, Arkesteijn, Ger, Pajares, Isidora Lopez, Goetz-Sothmann, Margret, Heinrich, Uwe, Rost, Imma, Dufke, Andreas, Grasshoff, Ute, Glaeser, Birgitta, Vingron, Martin, Ropers, H Hilger

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals von Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P, Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome von van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Brouwer, Alwin F.J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chung, Brain H.Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M.S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N.M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A.L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C.E.H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B.A., Clayton-Smith, Jill, Santen, Gijs W.E.

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probab... von Löffler, Markus W, Steinhilber, Julia, Hilke, Franz J, Haen, Sebastian P, Bösmüller, Hans, Montes-Mojarro, Ivonne-Aidee, Bonzheim, Irina, Stäbler, Antje, Faust, Ulrike, Grasshoff, Ute, Königsrainer, Ingmar, Rammensee, Hans-Georg, Kanz, Lothar, Königsrainer, Alfred, Beckert, Stefan, Riess, Olaf, Schroeder, Christopher

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A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats von Boy, Jana, Schmidt, Thorsten, Schumann, Ulrike, Grasshoff, Ute, Unser, Samy, Holzmann, Carsten, Schmitt, Ina, Karl, Tim, Laccone, Franco, Wolburg, Hartwig, Ibrahim, Saleh, Riess, Olaf

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An early onset cone dystrophy due to CEP290 mutation: a case report von Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina

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Humangenetische Diagnostik und Beratung - wer, wann und wie?: Das müssen Kinderärztin und Kinderarzt wissen von Grasshoff, Ute, Spranger, Stephanie

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients von Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, Jonghe, Peter, Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Hélène, Synofzik, Matthis

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome von van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.

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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder von Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange-Line, Them, Frédéric Tran Mau, Haack, Tobias B, Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations von Laugwitz, Lucia, Cheng, Fubo, Collins, Stephan C, Hustinx, Alexander, Navarro, Nicolas, Welsch, Simon, Cox, Helen, Hsieh, Tzung-Chien, Vijayananth, Aswinkumar, Buchert, Rebecca, Bender, Benjamin, Efthymiou, Stephanie, Murphy, David, Zafar, Faisal, Rana, Nuzhat, Grasshoff, Ute, Falb, Ruth J, Grimmel, Mona, Seibt, Annette, Zheng, Wenxu, Ghaedi, Hamid, Thirion, Marie, Couette, Sébastien, Azizimalamiri, Reza, Sadeghian, Saeid, Galehdari, Hamid, Zamani, Mina, Zeighami, Jawaher, Sedaghat, Alireza, Ramshe, Samira Molaei, Zare, Ali, Alipoor, Behnam, Klee, Dirk, Sturm, Marc, Ossowski, Stephan, Houlden, Henry, Riess, Olaf, Wieczorek, Dagmar, Gavin, Ryan, Maroofian, Reza, Krawitz, Peter, Yalcin, Binnaz, Distelmaier, Felix, Haack, Tobias B

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Phenotypic spectrum associated with CASK loss-of-function mutations von Moog, Ute, Kutsche, Kerstin, Kortüm, Fanny, Chilian, Bettina, Bierhals, Tatjana, Apeshiotis, Neophytos, Balg, Stefanie, Chassaing, Nicolas, Coubes, Christine, Das, Soma, Engels, Hartmut, Van Esch, Hilde, Grasshoff, Ute, Heise, Marisol, Isidor, Bertrand, Jarvis, Joanna, Koehler, Udo, Martin, Thomas, Oehl-Jaschkowitz, Barbara, Ortibus, Els, Pilz, Daniela T, Prabhakar, Prab, Rappold, Gudrun, Rau, Isabella, Rettenberger, Günther, Schlüter, Gregor, Scott, Richard H, Shoukier, Moonef, Wohlleber, Eva, Zirn, Birgit, Dobyns, William B, Uyanik, Gökhan

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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition von Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B, Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Deficiency of PORCN , a regulator of Wnt signaling, is associated with focal dermal hypoplasia von Hertl, Michael, Happle, Rudolf, Oeffner, Frank, Bornholdt, Dorothea, del Carmen Boente, María, Szalai, Zsuzsanna, Oji, Vinzenz, Traupe, Heiko, Schuchardt, Christian, Tadini, Gianluca, König, Arne, Paradisi, Mauro, Fritz, Barbara, Höfling, Katja, Grasshoff, Ute, Enders, Herbert, Grzeschik, Karl-Heinz

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