Found: 4

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  • Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.

    Published in:
    2011
    By:
    • Schramm, Charlotte;
    • Draaken, Markus;
    • Tewes, Gabriel;
    • Bartels, Enrika;
    • Schmiedeke, Eberhard;
    • Märzheuser, Stefanie;
    • Grasshoff-Derr, Sabine;
    • Hosie, Stuart;
    • Holland-Cunz, Stefan;
    • Priebe, Lutz;
    • Kreiß-Nachtsheim, Martina;
    • Hoffmann, Per;
    • Aretz, Stefan;
    • Nöthen, Markus M.;
    • Reutter, Heiko;
    • Ludwig, Michael;
    • Märzheuser, Stefanie;
    • Kreiss-Nachtsheim, Martina;
    • Nöthen, Markus M
    Publication type:
    journal article

  • The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2158, doi. 10.1002/ajmg.a.36046
    By:
    • Dikow, Nicola;
    • Maas, Bianca;
    • Gaspar, Harald;
    • Kreiss ‐ Nachtsheim, Martina;
    • Engels, Hartmut;
    • Kuechler, Alma;
    • Garbes, Lutz;
    • Netzer, Christian;
    • Neuhann, Teresa M.;
    • Koehler, Udo;
    • Casteels, Kristina;
    • DevriENdt, KoEN;
    • JanssEN, Johannes W.G.;
    • Jauch, Anna;
    • Hinderhofer, Katrin;
    • Moog, Ute
    Publication type:
    Article

  • A phenotype map for 14q32.3 terminal deletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
    By:
    • Engels, Hartmut;
    • Schüler, Herdit M.;
    • Zink, Alexander M.;
    • Wohlleber, Eva;
    • Brockschmidt, Antje;
    • Hoischen, Alexander;
    • Drechsler, Matthias;
    • Lee, Jennifer A.;
    • Ludwig, Kerstin U.;
    • Kubisch, Christian;
    • Schwanitz, Gesa;
    • Weber, Ruthild G.;
    • Leube, Barbara;
    • Hennekam, Raoul C. M.;
    • Rudnik-Schöneborn, Sabine;
    • Kreiß-Nachtsheim, Martina;
    • Reutter, Heiko
    Publication type:
    Article

  • A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
    By:
    • Engels, Hartmut;
    • Wohlleber, Eva;
    • Zink, Alexander;
    • Hoyer, Juliane;
    • Ludwig, Kerstin U.;
    • Brockschmidt, Felix F.;
    • Wieczorek, Dagmar;
    • Moog, Ute;
    • Hellmann-Mersch, Birgit;
    • Weber, Ruthild G.;
    • Willatt, Lionel;
    • Kreiß-Nachtsheim, Martina;
    • Firth, Helen V.;
    • Rauch, Anita
    Publication type:
    Article