Publications by authors named "Udo Trautmann"

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Udo Trautmann

Sci Rep· November 2018

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Udo Trautmann

Genet Med· June 2018

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann

Sci Rep· September 2017

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Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
Diana Zahnleiter, Udo Trautmann, Arif B Ekici, Ina Goehring, André Reis

Eur J Med Genet· December 2011

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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.
Michael Kraft, Ion Cristian Cirstea, Anne Kathrin Voss, Tim Thomas, Ina Goehring, Udo Trautmann

J Clin Invest· September 2011

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Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Ralf Rauch, Michael Hofbeck, Christiane Zweier, Andreas Koch, Stefan Zink, Udo Trautmann

J Med Genet· May 2010

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Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.
Ina Göhring, Andreas Tagariello, Sabine Endele, Claus C Stolt, Michella Ghassibé, Udo Trautmann

J Med Genet· February 2010

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6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.
Ina Göhring, Hans-Martin Blümlein, Juliane Hoyer, Arif B Ekici, Udo Trautmann

Eur J Med Genet· March 2009

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A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.
Christiane Zweier, Udo Trautmann, Arif Ekici, Anita Rauch

Eur J Med Genet· October 2008

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A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Christian T Thiel, Helmuth-Günther Dörr, Udo Trautmann, Juliane Hoyer, Kristin Hofmann

Eur J Med Genet· October 2008

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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.
Isabella Wimplinger, Anita Rauch, Ulrike Orth, Ulrich Schwarzer, Udo Trautmann

Eur J Med Genet· March 2008

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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Juliane Hoyer, Alexander Dreweke, Christian Becker, Ina Göhring, Christian T Thiel, Udo Trautmann

J Med Genet· October 2007

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New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
Holger Tönnies, Joanna Pietrzak, Ewa Bocian, Kay MacDermont, Alma Kuechler, Udo Trautmann

J Histochem Cytochem· June 2007

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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.
Volker O Melichar, Sabine Guth, Heide Hellebrand, Alfons Meindl, Katharina von der Hardt, Udo Trautmann

Am J Med Genet A· January 2007

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Udo Trautmann

Am J Med Genet A· October 2006

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Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Ronny Jung, Anita Rauch, Gajja S Salomons, Nanda M Verhoeven, Cornelis Jakobs, Udo Trautmann

Mol Genet Metab· July 2006

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9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.
Christiane Zweier, Sabine Guth, Uta Schulte-Mattler, Anita Rauch, Udo Trautmann

Eur J Med Genet· November 2005

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Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).
Martin Zenker, Bendicht Wermuth, Udo Trautmann, Ina Knerr, Cornelia Kraus

Am J Med Genet A· January 2005

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Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints.
Anita Heller, Ivan F Loncarevic, Melanie Glaser, Erich Gebhart, Udo Trautmann

Int J Oncol· January 2004

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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Sarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, Udo Trautmann, Bettina Moser

Am J Hum Genet· December 2003

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A novel 5q35.3 subtelomeric deletion syndrome.
Anita Rauch, Maike Beese, Ertan Mayatepek, Helmut-Günther Dörr, Dieter Wenzel, Udo Trautmann

Am J Med Genet A· August 2003

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