検索結果 - Andreas Janecke

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  1. 1
    Inherited ichthyoses/generalized Mendelian disorders of cornification

    Inherited ichthyoses/generalized Mendelian disorders of cornification 著者: Matthias Schmuth, Verena Martinz, Andreas Janecke, Christine Fauth, Anna Schossig, Johannes Zschocke, Robert Gruber

    出版事項 2012
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    Revisão
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  2. 2
    Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

    Ferroportin disease: A systematic meta-analysis of clinical and molecular findings 著者: Roman Mayr, Andreas Janecke, Melanie Schranz, William J. Griffiths, Wolfgang Vogel, Antonello Pietrangelo, Heinz Zoller

    出版事項 2010
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  3. 3
    Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

    Sensorineural hearing loss and the incidence of Cx26 mutations in Austria 著者: Judith Löffler, Doris Nekahm, Almut Hirst-Stadlmann, Barbara Günther, Hans‐Jürgen Menzel, Gerd Utermann, Andreas Janecke

    出版事項 2001
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    Artigo
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  4. 4
    Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3

    Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3 著者: Georg F. Vogel, Katharina MC Klee, Andreas Janecke, Thomas Müller, Michael W. Hess, Lukas A. Huber

    出版事項 2015
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    Artigo
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  5. 5
    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation 著者: Matthias Baumann, Elisabeth Steichen‐Gersdorf, Birgit Krabichler, Britt‐Sabina Petersen, U. Weber, Wolfgang M. Schmidt, Johannes Zschocke, Thomas Müller, Reginald E. Bittner, Andreas Janecke

    出版事項 2016
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    Artigo
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  6. 6
    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 著者: Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, G. Eich, Céline Chambaz, Andreas Janecke, Heather N. Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

    出版事項 2008
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    Artigo
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  7. 7
    Eculizumab for Atypical Hemolytic–Uremic Syndrome

    Eculizumab for Atypical Hemolytic–Uremic Syndrome 著者: Jens Nürnberger, Thomas Philipp, Oliver Witzke, Anabelle Opazo Saez, Udo Vester, Hideo A. Baba, Andreas Kribben, Lothar Bernd Zimmerhackl, Andreas Janecke, Mato Nagel, Michael Kirschfink

    出版事項 2009
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    Carta
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  8. 8
    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome 著者: Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques Baenziger, Lijuan Zhang, Andreas Janecke

    出版事項 2009
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    Artigo
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  9. 9
    Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

    Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome 著者: Thomas Müller, Shuji Mizumoto, Indrajit Suresh, Yoshie Komatsu, Julia Vodopiutz, Munis Dündar, Volker Straub, Arno Lingenhel, Andreas Melmer, Silvia Lechner, Johannes Zschocke, Kazuyuki Sugahara, Andreas Janecke

    出版事項 2013
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    Artigo
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  10. 10
    Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

    Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload 著者: Roman Mayr, William J. Griffiths, Martin Hermann, Ian G. McFarlane, David Halsall, Armin Finkenstedt, Andrew Douds, Susan Davies, Andreas Janecke, Wolfgang Vogel, Timothy M. Cox, Heinz Zoller

    出版事項 2011
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    Artigo
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  11. 11
    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components 著者: Marianne Rohrbach, Helen Spencer, Louise F. Porter, Emma Burkitt‐Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al‐Hussain, Matthias R. Baumgartner, Beat Steinmann, Graeme Black, Forbes D.C. Manson, Cecilia Giunta

    出版事項 2013
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    Artigo
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  12. 12
    <i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease

    <i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease 著者: William W. Motley, Paulius Palaima, Sabrina W. Yum, Michael Gonzalez, Feifei Tao, Julia Wanschitz, Alleene V. Strickland, Wolfgang N. Löscher, Els De Vriendt, Stefan Koppi, Līvija Medne, Andreas Janecke, Albena Jordanova, Stephan Züchner, Steven S. Scherer

    出版事項 2016
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    Artigo
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  13. 13
    Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

    Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation 著者: Armin Finkenstedt, Elisabeth Wolf, Elmar Höfner, Bethina Isasi Gasser, Sylvia Bösch, Rania Bakry, Marc Creus, Christian Kremser, Michael Schocke, Milan Theurl, Patrizia Moser, Melanie Schranz, Guenther K. Bonn, Werner Poewe, Wolfgang Vogel, Andreas Janecke, Heinz Zoller

    出版事項 2010
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    Artigo
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  14. 14
    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations

    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations 著者: Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann

    出版事項 2015
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    Artigo
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  15. 15
    Abnormal Rab11‐Rab8‐vesicles cluster in enterocytes of patients with microvillus inclusion disease

    Abnormal Rab11‐Rab8‐vesicles cluster in enterocytes of patients with microvillus inclusion disease 著者: Georg F. Vogel, Andreas Janecke, Iris M. Krainer, Karin Gutleben, Barbara Witting, Sally G. Mitton, Sahar Mansour, Antje Ballauff, Joseph T. Roland, Amy C. Engevik, Ernest Cutz, Thomas Müller, James R. Goldenring, Lukas A. Huber, Michael W. Hess

    出版事項 2017
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    Artigo
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  16. 16
    Complement Factor H–Related Protein 1 Deficiency and Factor H Antibodies in Pediatric Patients with Atypical Hemolytic Uremic Syndrome

    Complement Factor H–Related Protein 1 Deficiency and Factor H Antibodies in Pediatric Patients with Atypical Hemolytic Uremic Syndrome 著者: Johannes Hofer, Andreas Janecke, Lothar Bernd Zimmerhackl, Magdalena Riedl, Alejandra Rosales, Thomas Giner, Gérard Cortina, Carola J. Haindl, Barbara Petzelberger, Miriam Pawlik, Verena Jeller, Udo Vester, Bettina Gadner, Michael van Husen, Michael L. Moritz, Reinhard Würzner, Therese Jungraithmayr

    出版事項 2012
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    Artigo
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  17. 17
    Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

    Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function 著者: Robert Gruber, Peter M. Elias, Debra Crumrine, Tzu-Kai Lin, Johanna M. Brandner, Jean‐Pierre Hachem, Richard B. Presland, Philip Fleckman, Andreas Janecke, Aileen Sandilands, W.H. Irwin McLean, Peter Fritsch, Michael Mildner, Erwin Tschachler, Matthias Schmuth

    出版事項 2011
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    Artigo
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  18. 18
    Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations

    Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations 著者: Georg F. Vogel, Jorik M. van Rijn, Iris M. Krainer, Andreas Janecke, Carsten Posovzsky, Marta C. Cohen, Claire Searle, Prévost Jantchou, Johanna C. Escher, Natalie Patey, Ernest Cutz, Thomas Müller, Sabine Middendorp, Michael W. Hess, Lukas A. Huber

    出版事項 2017
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    Artigo
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  19. 19
    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics 著者: Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno J. Bolz

    出版事項 2011
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    Artigo
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  20. 20
    Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

    Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin 著者: Michaela Auer‐Grumbach, Martin Weger, Regina Fink‐Puches, Lea Papić, Eleonore Fröhlich, Piet Auer‐Grumbach, Laila El Shabrawi‐Caelen, Maria Schabhüttl, Christian Windpassinger, Jan Senderek, Herbert Budka, Slave Trajanoski, Andreas Janecke, Anton Haas, Dieter Metze, Thomas R. Pieber, Christian Guelly

    出版事項 2011
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    Artigo
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