Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
Sismani, Carolina, Rapti, Stamatia-Maria, Iliopoulou, Pavlina, Spring, Anastasia, Neroutsou, Rozalia, Lagou, Magdalini, Robola, Marianna, Tsitsopoulos, Efstathios, Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Theodosiou, Athina, Syrrou, Maria, Fuchs, Sigrid, Hempel, Maja, Huhle, Dagmar, Liehr, Thomas, Ziegler, Monika, Duesberg, Max, Velissariou, Voula
Published in Journal of human genetics (01.09.2020)
Published in Journal of human genetics (01.09.2020)
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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H, Donze, Stephany H, Bijlsma, Emilia K, van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K, Parker, Michael J, Lemke, Johannes R, Hoffmann, Georg F, Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds
Méndez-Rosado, Luis A., de León-Ojeda, Norma, García, Alina, Sheth, Frenny, Gaadi, Asmaa, Bousfiha, Ahmed Aziz, Lehlimi, Mouna, Natiq, Abdelhafid, Kurinnaia, Oxana S., Vorsanova, Svetlana G., Iourov, Ivan, Huhle, Dagmar, Liehr, Thomas
Published in Egyptian Journal of Medical Human Genetics (09.12.2022)
Published in Egyptian Journal of Medical Human Genetics (09.12.2022)
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration
Hornemann, Frauke, Le Duc, Diana, Roth, Christian, Pfäffle, Roland, Huhle, Dagmar, Merkenschlager, Andreas
Published in Neuropediatrics (01.02.2020)
Published in Neuropediatrics (01.02.2020)
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Journal Article
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
Mitter, Diana, Pringsheim, Milka, Kaulisch, Marc, Plümacher, Kim Sarah, Schröder, Simone, Warthemann, Rita, Abou Jamra, Rami, Baethmann, Martina, Bast, Thomas, Büttel, Hans-Martin, Cohen, Julie S., Conover, Elizabeth, Courage, Carolina, Eger, Angelika, Fatemi, Ali, Grebe, Theresa A., Hauser, Natalie S., Heinritz, Wolfram, Helbig, Katherine L., Heruth, Marion, Huhle, Dagmar, Höft, Karen, Karch, Stephanie, Kluger, Gerhard, Korenke, G. Christoph, Lemke, Johannes R., Lutz, Richard E., Patzer, Steffi, Prehl, Isabelle, Hoertnagel, Konstanze, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Rohena, Luis, Schimmel, Mareike, Westman, Rachel, Zech, Frank-Martin, Zoll, Barbara, Malzahn, Dörthe, Zirn, Birgit, Brockmann, Knut
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm, Fanny, Jamra, Rami Abou, Alawi, Malik, Berry, Susan A, Borck, Guntram, Helbig, Katherine L, Tang, Sha, Huhle, Dagmar, Korenke, Georg Christoph, Hebbar, Malavika, Shukla, Anju, Girisha, Katta M, Steinlin, Maja, Waldmeier-Wilhelm, Sandra, Montomoli, Martino, Guerrini, Renzo, Lemke, Johannes R, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Published in Molecular genetics & genomic medicine (01.09.2017)
Published in Molecular genetics & genomic medicine (01.09.2017)
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Mitotic Stability of Small Supernumerary Marker Chromosomes: A Study Based on 93 Immortalized Cell Lines
Spittel, Hannes, Kubek, Florian, Kreskowski, Katharina, Ziegler, Monika, Klein, Elisabeth, Hamid, Ahmed B., Kosyakova, Nadezda, Radhakrishnan, Gopakumar, Junge, Annelore, Kozlowski, Peter, Schulze, Berndt, Martin, Thomas, Huhle, Dagmar, Mehnert, Karl, Rodríguez, Laura, Ergun, Mehmet A., Sarri, Catherine, Militaru, Mariela, Stipoljev, Fedora, Tittelbach, Hanne, Vasheghani, Faezeh, de Bello Cioffi, Marcelo, Hussein, Shaymaa S., Fan, Xiaobo, Volleth, Marianne, Liehr, Thomas
Published in Cytogenetic and genome research (01.01.2014)
Published in Cytogenetic and genome research (01.01.2014)
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Journal Article
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX 26 mutated in Heimler syndrome
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Cornelie Müller‐Hofstede, Issa, Peter Charbel, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M, Huhle, Dagmar, Elsayed, Solaf M, Taha, Hesham M, Baig, Shahid M, Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Kerstin Nagel‐Wolfrum, Khan, Arif O, Bolz, Hanno J
Published in Molecular genetics & genomic medicine (01.09.2017)
Published in Molecular genetics & genomic medicine (01.09.2017)
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Clinical, cytogenetic and molecular investigation in a fetus with wolf-hirschhorn syndrome with paternally derived 4p deletion: Case report and review of the literature
DIETZE, Ilona, FRITZ, Barbara, HUHLE, Dagmar, SIMOENS, Wouter, PIECHA, Ernestine, REHDER, Helga
Published in Fetal diagnosis and therapy (01.05.2004)
Published in Fetal diagnosis and therapy (01.05.2004)
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Journal Article
Clinical, Cytogenetic and Molecular Investigation in a Fetus with Wolf-Hirschhorn Syndrome with Paternally Derived 4p Deletion
Dietze, Ilona, Fritz, Barbara, Huhle, Dagmar, Simoens, Wouter, Piecha, Ernestine, Rehder, Helga
Published in Fetal diagnosis and therapy (01.05.2004)
Published in Fetal diagnosis and therapy (01.05.2004)
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Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Buttner, Benjamin, Martin, Sonja, Finck, Anja, Arelin, Maria, Baade-Buttner, Carolin, Bartolomaeus, Tobias, Bauer, Peter, Bertsche, Astrid, Bernhard, Matthias K, Biskup, Saskia, Nataliya Di Donato, Elgizouli, Magdeldin, Ewald, Roland, Heine, Constanze, Hellenbroich, Yorck, Hentschel, Julia, Hoffjan, Sabine, Horn, Susanne, Hornemann, Frauke, Huhle, Dagmar, Kamphausen, Susanne B, Kiess, Wieland, Krey, Ilona, Kuechler, Alma, Liesfeld, Ben, Merkenschlager, Andreas, Mitter, Diana, Muschke, Petra, Pfaffle, Roland, Polster, Tilman, Schanze, Ina, Jan-Ulrich Schlump, Syrbe, Steffen, Wieczorek, Dagmar, Zenker, Martin, Lemke, Johannes R, Diana Le Duc, Platzer, Konrad, Rami Abou Jamra
Published in bioRxiv (26.03.2019)
Published in bioRxiv (26.03.2019)
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