Works by Ullmann, Reinhard


Results: 57
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    A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

    Published in:
    Human Mutation, 2009, v. 30, n. 1, p. 61, doi. 10.1002/humu.20814
    By:
    • Kalscheuer, Vera M.;
    • Musante, Luciana;
    • Fang, Cheng;
    • Hoffmann, Kirsten;
    • Fuchs, Celine;
    • Carta, Eloisa;
    • Deas, Emma;
    • Venkateswarlu, Kanamarlapudi;
    • Menzel, Corinna;
    • Ullmann, Reinhard;
    • Tommerup, Niels;
    • Dalprà, Leda;
    • Tzschach, Andreas;
    • Selicorni, Angelo;
    • Lüscher, Bernhard;
    • Ropers, Hans-Hilger;
    • Harvey, Kirsten;
    • Harvey, Robert J.
    Publication type:
    Article
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    Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

    Published in:
    Human Mutation, 2007, v. 28, n. 7, p. 674, doi. 10.1002/humu.20546
    By:
    • Ullmann, Reinhard;
    • Turner, Gillian;
    • Kirchhoff, Maria;
    • Chen, Wei;
    • Tonge, Bruce;
    • Rosenberg, Carla;
    • Field, Michael;
    • Vianna-Morgante, Angela M.;
    • Christie, Louise;
    • Krepischi-Santos, Ana C.;
    • Banna, Lynn;
    • Brereton, Avril V.;
    • Hill, Alyssa;
    • Bisgaard, Anne-Marie;
    • Müller, Ines;
    • Hultschig, Claus;
    • Erdogan, Fikret;
    • Wieczorek, Georg;
    • Ropers, H. Hilger
    Publication type:
    Article
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    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
    By:
    • Wei Chen;
    • Ullmann, Reinhard;
    • Langnick, Claudia;
    • Menzel, Corinna;
    • Wotschofsky, Zofia;
    • Hu, Hao;
    • Döring, Andreas;
    • Yuhui Hu;
    • Hui Kang;
    • Tzschach, Andreas;
    • Hoeltzenbein, Maria;
    • Neitzel, Heidemarie;
    • Markus, Susanne;
    • Wiedersberg, Eberhard;
    • Kistner, Gerd;
    • van Ravenswaaij-Arts, Conny M. A.;
    • Kleefstra, Tjitske;
    • Kalscheuer, Vera M;
    • Ropers, Hans-Hilger
    Publication type:
    Article
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    Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1010, doi. 10.1038/ejhg.2008.269
    By:
    • Zhang, Litu;
    • Tümer, Zeynep;
    • Møllgård, Kjeld;
    • Barbi, Gotthold;
    • Rossier, Eva;
    • Bendsen, Eske;
    • Møller, Rikke Steensbjerre;
    • Ullmann, Reinhard;
    • Jian He;
    • Papadopoulos, Nickolas;
    • Tommerup, Niels;
    • Larsen, Lars Allan
    Publication type:
    Article
    8

    A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
    By:
    • Gilling, Mette;
    • Lauritsen, Marlene Briciet;
    • Møller, Morten;
    • Henriksen, Karen Friis;
    • Vicente, Astrid;
    • Oliveira, Guiomar;
    • Cintin, Christina;
    • Eiberg, Hans;
    • Andersen, Paal Skyt;
    • Mors, Ole;
    • Rosenberg, Thomas;
    • Brøndum-Nielsen, Karen;
    • Cotterill, Rodney M. J.;
    • Lundsteen, Claes;
    • Ropers, Hans-Hilger;
    • Ullmann, Reinhard;
    • Bache, Iben;
    • Tümer, Zeynep;
    • Tommerup, Niels
    Publication type:
    Article
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    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Published in:
    Nature Genetics, 2008, v. 40, n. 9, p. 1065, doi. 10.1038/ng.194
    By:
    • Najm, Juliane;
    • Horn, Denise;
    • Wimplinger, Isabella;
    • Golden, Jeffrey A.;
    • Chizhikov, Victor C.;
    • Sudi, Jyotsna;
    • Christian, Susan L.;
    • Ullmann, Reinhard;
    • Kuechler, Alma;
    • Haas, Carola A.;
    • Flubacher, Armin;
    • Charnas, Lawrence R.;
    • Uyanik, Gökhan;
    • Frank, Ulrich;
    • Klopocki, Eva;
    • Dobyns, William B.;
    • Kutsche, Kerstin
    Publication type:
    Article
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    Routine CT Diagnostics Cause Dose-Dependent Gene Expression Changes in Peripheral Blood Cells.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 7, p. 3185, doi. 10.3390/ijms26073185
    By:
    • Kaatsch, Hanns Leonhard;
    • Kubitscheck, Laura;
    • Wagner, Simon;
    • Hantke, Thomas;
    • Preiss, Maximilian;
    • Ostheim, Patrick;
    • Nestler, Tim;
    • Piechotka, Joel;
    • Overhoff, Daniel;
    • Brockmann, Marc A.;
    • Waldeck, Stephan;
    • Port, Matthias;
    • Ullmann, Reinhard;
    • Becker, Benjamin V.
    Publication type:
    Article
    14

    Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/ BRCA2 disruption.

    Published in:
    Genes, Chromosomes & Cancer, 2007, v. 46, n. 4, p. 359, doi. 10.1002/gcc.20417
    By:
    • Meyer, Stefan;
    • Fergusson, William D.;
    • Whetton, Anthony D.;
    • Moreira-Leite, Flavia;
    • Pepper, Stuart D.;
    • Miller, Crispin;
    • Saunders, Emma K.;
    • White, Daniel J.;
    • Will, Andrew M.;
    • Eden, Tim;
    • Ikeda, Hideyuki;
    • Ullmann, Reinhard;
    • Tuerkmen, Seval;
    • Gerlach, Antje;
    • Klopocki, Eva;
    • Tönnies, Holger
    Publication type:
    Article
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    Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line.

    Published in:
    Frontiers in Oncology, 2018, p. 1, doi. 10.3389/fonc.2018.00183
    By:
    • Steininger, Anne;
    • Ebert, Grit;
    • Becker, Benjamin V.;
    • Assaf, Chalid;
    • Möbs, Markus;
    • Schmidt, Christian A.;
    • Grabarczyk, Piotr;
    • Jensen, Lars R.;
    • Przybylski, Grzegorz K.;
    • Port, Matthias;
    • Kuss, Andreas W.;
    • Ullmann, Reinhard
    Publication type:
    Article
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    Epilepsy and mental retardation limited to females: an under-recognized disorder.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
    By:
    • Ingrid E. Scheffer;
    • Samantha J. Turner;
    • Leanne M. Dibbens;
    • Marta A. Bayly;
    • Kathryn Friend;
    • Bree Hodgson;
    • Linda Burrows;
    • Marie Shaw;
    • Chen Wei;
    • Reinhard Ullmann;
    • Hans-Hilger Ropers;
    • Pierre Szepetowski;
    • Eric Haan;
    • Aziz Mazarib;
    • Zaid Afawi;
    • Miriam Y. Neufeld;
    • P. Ian Andrews;
    • Geoffrey Wallace;
    • Sara Kivity;
    • Dorit Lev
    Publication type:
    Article
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    Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

    Published in:
    Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
    By:
    • Kuss, Andreas Walter;
    • Garshasbi, Masoud;
    • Kahrizi, Kimia;
    • Tzschach, Andreas;
    • Behjati, Farkhondeh;
    • Darvish, Hossein;
    • Abbasi-Moheb, Lia;
    • Puettmann, Lucia;
    • Zecha, Agnes;
    • Weißmann, Robert;
    • Hu, Hao;
    • Mohseni, Marzieh;
    • Abedini, Seyedeh;
    • Rajab, Anna;
    • Hertzberg, Christoph;
    • Wieczorek, Dagmar;
    • Ullmann, Reinhard;
    • Ghasemi-Firouzabadi, Saghar;
    • Banihashemi, Susan;
    • Arzhangi, Sanaz
    Publication type:
    Article
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    SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

    Published in:
    Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
    By:
    • Masoud Garshasbi;
    • Motazacker, Mohammad Mahdi;
    • Kahrizi, Kimia;
    • Behjati, Farkhondeh;
    • Abedini, Seyedeh Sedigheh;
    • Nieh, Sahar Esmaeeli;
    • Firouzabadi, Saghar Ghasemi;
    • Becker, Christian;
    • Rüschendorf, Franz;
    • Nürnberg, Peter;
    • Tzschach, Andreas;
    • Vazifehmand, Reza;
    • Erdogan, Fikret;
    • Ullmann, Reinhard;
    • Lenzner, Steffen;
    • Kuss, Andreas W.;
    • Ropers, H. Hilger;
    • Najmabadi, Hossein
    Publication type:
    Article
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    Impact of medical imaging on the epigenome – low-dose exposure in the course of computed tomography does not induce detectable changes of DNA-methylation profiles in peripheral blood cells.

    Published in:
    International Journal of Radiation Biology, 2022, v. 98, n. 5, p. 980, doi. 10.1080/09553002.2021.2004329
    By:
    • Becker, Benjamin Valentin;
    • Kaatsch, Hanns Leonhard;
    • Nestler, Kai;
    • Jakobi, Julia;
    • Schäfer, Barbara;
    • Hantke, Thomas;
    • Brockmann, Marc A.;
    • Waldeck, Stephan;
    • Port, Matthias;
    • Ullmann, Reinhard
    Publication type:
    Article
    32

    Gene expression for biodosimetry and effect prediction purposes: promises, pitfalls and future directions – key session ConRad 2021.

    Published in:
    International Journal of Radiation Biology, 2022, v. 98, n. 5, p. 843, doi. 10.1080/09553002.2021.1987571
    By:
    • Ostheim, Patrick;
    • Amundson, Sally A.;
    • Badie, Christophe;
    • Bazyka, Dimitry;
    • Evans, Angela C.;
    • Ghandhi, Shanaz A.;
    • Gomolka, Maria;
    • López Riego, Milagrosa;
    • Rogan, Peter K.;
    • Terbrueggen, Robert;
    • Woloschak, Gayle E.;
    • Zenhausern, Frederic;
    • Kaatsch, Hanns L.;
    • Schüle, Simone;
    • Ullmann, Reinhard;
    • Port, Matthias;
    • Abend, Michael
    Publication type:
    Article
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    Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin–Frankfurt–Münster (BFM) protocols containing early and late re-intensification elements.

    Published in:
    British Journal of Haematology, 2010, v. 148, n. 2, p. 293, doi. 10.1111/j.1365-2141.2009.07944.x
    By:
    • Attarbaschi, Andishe;
    • Pisecker, Markus;
    • Inthal, Andrea;
    • Mann, Georg;
    • Janousek, Dasa;
    • Dworzak, Michael;
    • Pötschger, Ulrike;
    • Ullmann, Reinhard;
    • Schrappe, Martin;
    • Gadner, Helmut;
    • Haas, Oskar A.;
    • Panzer-Grümayer, Renate;
    • Strehl, Sabine
    Publication type:
    Article
    42

    A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

    Published in:
    Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
    By:
    • Grimm, Tiemo;
    • Garshasbi, Masoud;
    • Puettmann, Lucia;
    • Chen, Wei;
    • Ullmann, Reinhard;
    • Müller-Myhsok, Bertram;
    • Klopocki, Eva;
    • Herbst, Lina;
    • Haug, Janina;
    • Jensen, Lars R.;
    • Fischer, Christine;
    • Nöthen, Markus;
    • Ludwig, Kerstin;
    • Warnke, Andreas;
    • Ott, Jürg;
    • Schulte-Körne, Gerd;
    • Ropers, Hans-Hilger;
    • Kuss, Andreas W.
    Publication type:
    Article
    43

    A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

    Published in:
    Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
    By:
    • Grimm, Tiemo;
    • Garshasbi, Masoud;
    • Puettmann, Lucia;
    • Chen, Wei;
    • Ullmann, Reinhard;
    • Müller-Myhsok, Bertram;
    • Klopocki, Eva;
    • Herbst, Lina;
    • Haug, Janina;
    • Jensen, Lars R.;
    • Fischer, Christine;
    • Nöthen, Markus;
    • Ludwig, Kerstin;
    • Warnke, Andreas;
    • Ott, Jürg;
    • Schulte-Körne, Gerd;
    • Ropers, Hans-Hilger;
    • Kuss, Andreas W.
    Publication type:
    Article
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    Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2771, doi. 10.1002/ajmg.a.34230
    By:
    • Tzschach, Andreas;
    • Ullmann, Reinhard;
    • Ahmed, Alischo;
    • Martin, Thomas;
    • Weber, Georg;
    • Decker-Schwering, Oliver;
    • Pauly, Fernand;
    • Shamdeen, Mohammed Ghiath;
    • Reith, Wolfgang;
    • Oehl-Jaschkowitz, Barbara
    Publication type:
    Article
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