Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Hauer, Nadine N, Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T
Published in Scientific reports (22.09.2017)
Published in Scientific reports (22.09.2017)
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Popp, Bernt, Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias, Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B, Asadollahi, Reza, Regensburger, Martin, Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate, Reis, André
Published in Scientific reports (21.11.2018)
Published in Scientific reports (21.11.2018)
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Journal Article
Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot
Rauch, Ralf, Hofbeck, Michael, Zweier, Christiane, Koch, Andreas, Zink, Stefan, Trautmann, Udo, Hoyer, Juliane, Kaulitz, Renate, Singer, Helmut, Rauch, Anita
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Rauch, Anita, Hoyer, Juliane, Guth, Sabine, Zweier, Christiane, Kraus, Cornelia, Becker, Christian, Zenker, Martin, Hüffmeier, Ulrike, Thiel, Christian, Rüschendorf, Franz, Nürnberg, Peter, Reis, André, Trautmann, Udo
Published in American journal of medical genetics. Part A (01.10.2006)
Published in American journal of medical genetics. Part A (01.10.2006)
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Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice
Kraft, Michael, Cirstea, Ion Cristian, Voss, Anne Kathrin, Thomas, Tim, Goehring, Ina, Sheikh, Bilal N, Gordon, Lavinia, Scott, Hamish, Smyth, Gordon K, Ahmadian, Mohammad Reza, Trautmann, Udo, Zenker, Martin, Tartaglia, Marco, Ekici, Arif, Reis, André, Dörr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian Thomas
Published in The Journal of clinical investigation (01.09.2011)
Published in The Journal of clinical investigation (01.09.2011)
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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Hoyer, Juliane, Dreweke, Alexander, Becker, Christian, Göhring, Ina, Thiel, Christian T, Peippo, Maarit M, Rauch, Ralf, Hofbeck, Michael, Trautmann, Udo, Zweier, Christiane, Zenker, Martin, Hüffmeier, Ulrike, Kraus, Cornelia, Ekici, Arif B, Rüschendorf, Franz, Nürnberg, Peter, Reis, André, Rauch, Anita
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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Journal Article
Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation
Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Published in American journal of human genetics (01.12.2003)
Published in American journal of human genetics (01.12.2003)
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First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation
Rauch, A, Schellmoser, S, Kraus, C, Dörr, H G, Trautmann, U, Altherr, M R, Pfeiffer, R A, Reis, A
Published in American journal of medical genetics (01.04.2001)
Published in American journal of medical genetics (01.04.2001)
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Disruption of ST5 is associated with mental retardation and multiple congenital anomalies
Göhring, Ina, Tagariello, Andreas, Endele, Sabine, Stolt, Claus C, Ghassibé, Michella, Fisher, Malcolm, Thiel, Christian T, Trautmann, Udo, Vikkula, Miikka, Winterpacht, Andreas, FitzPatrick, David R, Rauch, Anita
Published in Journal of medical genetics (01.02.2010)
Published in Journal of medical genetics (01.02.2010)
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Journal Article
Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
Wimplinger, Isabella, Rauch, Anita, Orth, Ulrike, Schwarzer, Ulrich, Trautmann, Udo, Kutsche, Kerstin
Published in European journal of medical genetics (01.11.2007)
Published in European journal of medical genetics (01.11.2007)
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Journal Article
Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum
Zahnleiter, Diana, Trautmann, Udo, Ekici, Arif B, Goehring, Ina, Reis, André, Dörr, Helmuth-Günther, Rauch, Anita, Thiel, Christian T
Published in European journal of medical genetics (01.09.2011)
Published in European journal of medical genetics (01.09.2011)
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A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Thiel, Christian T, Dörr, Helmuth-Günther, Trautmann, Udo, Hoyer, Juliane, Hofmann, Kristin, Kraus, Cornelia, Ekici, Arif B, Reis, André, Rauch, Anita
Published in European journal of medical genetics (01.07.2008)
Published in European journal of medical genetics (01.07.2008)
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6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
Göhring, Ina, Blümlein, Hans-Martin, Hoyer, Juliane, Ekici, Arif B, Trautmann, Udo, Rauch, Anita
Published in European journal of medical genetics (01.11.2008)
Published in European journal of medical genetics (01.11.2008)
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A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males
Melichar, Volker O., Guth, Sabine, Hellebrand, Heide, Meindl, Alfons, Hardt, Katharina von der, Kraus, Cornelia, Trautmann, Udo, Rascher, Wolfgang, Rauch, Anita, Zenker, Martin
Published in American journal of medical genetics. Part A (15.01.2007)
Published in American journal of medical genetics. Part A (15.01.2007)
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Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
Jung, Ronny, Rauch, Anita, Salomons, Gajja S., Verhoeven, Nanda M., Jakobs, Cornelis, Michael Gibson, K., Lachmann, Ehrenfried, Sass, Jörn Oliver, Trautmann, Udo, Zweier, Christiane, Staatz, Gundula, Knerr, Ina
Published in Molecular genetics and metabolism (01.07.2006)
Published in Molecular genetics and metabolism (01.07.2006)
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Journal Article
6.7 Mb interstitial duplication in chromosome band 1 lq24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
GÖHRING, Ina, BLÜMLEIN, Hans-Martin, HOYER, Juliane, EKICI, Arif B, TRAUTMANN, Udo, RAUCH, Anita
Published in European journal of medical genetics (2008)
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Published in European journal of medical genetics (2008)
Journal Article
New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome: Towards the Establishment of a Cell Bank
Tonnies, Holger, Pietrzak, Joanna, Bocian, Ewa, MacDermont, Kay, Kuechler, Alma, Belitz, Britta, Trautmann, Udo, Schmidt, Angela, Schulze, Berndt, Rodriguez, Laura, Binkert, Franz, Yardin, Catharine, Kosyakova, Nadezda, Volleth, Marianne, Mkrtchyan, Hasmik, Schreyer, Isolde, von Eggeling, Ferdinand, Weise, Anja, Mrasek, Kristin, Liehr, Thomas
Published in The journal of histochemistry and cytochemistry (01.06.2007)
Published in The journal of histochemistry and cytochemistry (01.06.2007)
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