检索结果 - Gudrun Rappold

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  1. 1
    The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

    The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders 由 Claire Bacon, Gudrun Rappold

    出版 2012
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  2. 2
    Dynamic expression of the Slit‐Robo GTPase activating protein genes during development of the murine nervous system

    Dynamic expression of the Slit‐Robo GTPase activating protein genes during development of the murine nervous system 由 Claire Bacon, Volker Endris, Gudrun Rappold

    出版 2009
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  3. 3
    A Track Record on SHOX: From Basic Research to Complex Models and Therapy

    A Track Record on SHOX: From Basic Research to Complex Models and Therapy 由 Antonio Marchini, Tsutomu Ogata, Gudrun Rappold

    出版 2016
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  4. 4
    Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants

    Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants 由 Ahmed Eltokhi, Gudrun Rappold, Rolf Sprengel

    出版 2018
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  5. 5
    Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity

    Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity 由 Laetitia Francelle, Tiago F. Outeiro, Gudrun Rappold

    出版 2020
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  6. 6
    The human pseudoautosomal regions: a review for genetic epidemiologists

    The human pseudoautosomal regions: a review for genetic epidemiologists 由 Antònia Flaquer, Gudrun Rappold, Thomas F. Wienker, Christine Fischer

    出版 2008
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  7. 7
    Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island.

    Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island. 由 Gudrun Rappold, Lisa Stubbs, Siegfried Labeit, Radomir Crkvenjakov, Hans Lehrach

    出版 1987
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  8. 8
    BNP is a transcriptional target of the short stature homeobox gene SHOX

    BNP is a transcriptional target of the short stature homeobox gene SHOX 由 Antonio Marchini, Beate Häcker, Tiina Marttila, V. Hesse, Joyce Emons, Birgit Weiß, Marcel Karperien, Gudrun Rappold

    出版 2007
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  9. 9
    Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

    Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome 由 Jing Wang, Henning Fröhlich, Felipe Bodaleo Torres, Rangel L. Silva, Gernot Poschet, Amit Agarwal, Gudrun Rappold

    出版 2022
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  10. 10
    Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females

    Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females 由 K. Schiebel, M. Winkelmann, Annelyse Mertz, Xiaoling Xu, David C. Page, Dominique Weil, Christine Petit, Gudrun Rappold

    出版 1997
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  11. 11
    Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes

    Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes 由 Gudrun Rappold, Thomas Cremer, H. D. Hager, K.E. Davies, C. R. M�ller, Thomas P. Yang

    出版 1984
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  12. 12
    Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

    Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain 由 J Chen, G. Wildhardt, Zeyan Zhong, Rebecca Roth, B Weiss, Daniela Steinberger, Jochen Decker, Werner Blum, Gudrun Rappold

    出版 2009
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  13. 13
    SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development

    SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development 由 Rüdiger J. Blaschke, A. Paula Monaghan, Simone Schiller, Birgit Schechinger, Ercole Rao, Hesed Padilla‐Nash, Thomas Ried, Gudrun Rappold

    出版 1998
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  14. 14
    Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

    Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency 由 Gudrun Rappold, W. F. Blum, Elena P. Shavrikova, Brenda Crowe, Ralph Roeth, Charmian A. Quigley, Judith L. Ross, Beate Niesler

    出版 2006
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  15. 15
    Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart

    Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart 由 Sandra Puskaric, Stefanie Schmitteckert, Alessandro Mori, Anne Gläser, Katja Schneider, Benoit G. Bruneau, Rüdiger J. Blaschke, Herbert Steinbeißer, Gudrun Rappold

    出版 2010
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  16. 16
    Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex

    Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex 由 Xue Li, Jian Xiao, Henning Fröhlich, Xiaomeng Tu, Lianlian Li, Yue Xu, Huateng Cao, Jia Qu, Gudrun Rappold, Jie-Guang Chen

    出版 2015
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  17. 17
    Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia

    Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia 由 Sandra Hoffmann, Ina M. Berger, Anne Gläser, Claire Bacon, Li Li, Norbert Gretz, Herbert Steinbeißer, Wolfgang Rottbauer, Steffen Just, Gudrun Rappold

    出版 2013
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  18. 18
    Deletions of the Homeobox Gene<i>SHOX</i>(Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature

    Deletions of the Homeobox Gene<i>SHOX</i>(Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature 由 Gudrun Rappold, Maki Fukami, Beate Niesler, Simone Schiller, Walter Zumkeller, Markus Bettendorf, U. Heinrich, Elpis Vlachopapadoupoulou, Thomas Reinehr, Kazumichi Onigata, Tsutomu Ogata

    出版 2002
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  19. 19
    Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in <i>Foxp1</i> <sup>+/−</sup> mice

    Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in <i>Foxp1</i> <sup>+/−</sup> mice 由 Henning Fröhlich, Marie Luise Kollmeyer, Valerie Catherine Linz, Manuel Stuhlinger, Dieter Groneberg, Amelie Reigl, Eugen Zizer, Andreas Friebe, Beate Niesler, Gudrun Rappold

    出版 2019
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  20. 20
    Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

    Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome 由 Simone Schiller, Stephanie Spranger, Birgit Schechinger, Maki Fukami, Sabine Merker, Stenvert L. S. Drop, J. Tröger, Hans Knoblauch, Jürgen Kunze, Jörg Seidel, Gudrun Rappold

    出版 2000
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