Výsledky vyhledávání - Anne Gregor

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  1. 1
    Deregulated ion channels contribute to <i>RHOBTB2</i>-associated developmental and epileptic encephalopathy

    Deregulated ion channels contribute to <i>RHOBTB2</i>-associated developmental and epileptic encephalopathy Autor Franziska Langhammer, Anne Gregor, Niels R. Ntamati, Arif B. Ekici, Beate Winner, Thomas Nevian, Christiane Zweier

    Vydáno 2025
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  2. 2
    De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

    De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability Autor Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven, Juliane Hoyer, Heinrich Sticht, Arif B. Ekici, Susanne Kjærgaard, Anita Rauch, H.G. Stunnenberg, Steffen Uebe, Georgia Vasileiou, André Reis, Huiqing Zhou, Christiane Zweier

    Vydáno 2013
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  3. 3
    Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

    Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance Autor Franck Rapaport, Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen‐Ying Zhang, Joseph G. Gleeson, Lluı́s Quintana-Murci, Jean‐Laurent Casanova, Laurent Abel, Étienne Patin

    Vydáno 2021
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  4. 4
    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression Autor Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana Johnson, Lisa Robertson, Helen V. Firth, Cornelia Kraus, Arif B. Ekici, André Reis, Anita Rauch

    Vydáno 2010
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  5. 5
    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia Autor Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Vydáno 2017
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  6. 6
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Autor Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K. Bijlsma, Arif B. Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Christina Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier

    Vydáno 2011
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  7. 7
    Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

    Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors Autor Hongda Li, Laura Saucedo-Cuevas, Ling Yuan, Danica Ross, Anide Johansen, Daniel I. Sands, Valentina Stanley, Alicia Guemez‐Gamboa, Anne Gregor, Todd Evans, Shuibing Chen, Lei Tan, Henrik Molina, Nicholas Sheets, Sergey A. Shiryaev, Alexey V. Terskikh, Amy S. Gladfelter, Sujan Shresta, Zhiheng Xu, Joseph G. Gleeson

    Vydáno 2019
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  8. 8
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila Autor Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Vydáno 2017
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  9. 9
    Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

    Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases Autor Stefan Haskamp, Heiko Bruns, Madelaine Hahn, Markus Hoffmann, Anne Gregor, Sabine Löhr, Jonas Hahn, Christine Schauer, Mark Ringer, Cindy Flamann, Benjamin Frey, Adam Lesner, Christian T. Thiel, Arif B. Ekici, Stephan von Hörsten, G. Aßmann, Claudia Riepe, Maximilien Euler, Knut Schäkel, Sandra Philipp, Jörg C. Prinz, Rotraut Mößner, Florina Kersting, Michael Sticherling, Abdelaziz Sefiani, Jaber Lyahyai, Wiebke Sondermann, Vinzenz Oji, Peter Schulz, Dagmar Wilsmann‐Theis, Heinrich Sticht, Georg Schett, André Reis, Steffen Uebe, Silke Frey, Ulrike Hüffmeier

    Vydáno 2020
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  10. 10
    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females Autor D.L. Polla, Elizabeth Bhoj, Joanne Verheij, Jolien S. Klein Wassink‐Ruiter, André Reis, Charu Deshpande, Anne Gregor, K. Hill-Karfe, Anneke T. Vulto‐van Silfhout, Rolph Pfundt, Ernie M.H.F. Bongers, Hákon Hákonarson, Siren Berland, Gyri Aasland Gradek, Siddharth Banka, Kate Chandler, Lianne Gompertz, Sophie C. Huffels, Constance T. R. M. Stumpel, R. Wennekes, Alexander P.A. Stegmann, William Reardon, Erika Leenders, Bert B.A. de Vries, D. Li, Elaine H. Zackai, Nicola Ragge, Sally Ann Lynch, Sanmati Cuddapah, Hans van Bokhoven, Christiane Zweier, Arjan P.M. de Brouwer

    Vydáno 2020
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  11. 11
    Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

    Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments Autor David Cheerie, Margaret Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy, Emma Sherrill, Stefanie Leonard, Stephan Sanders, Emily J. Blake, Nour Elkhateeb, Aastha Gandhi, Nicole Si Yan Liang, J. Morgan, Anna Verwillow, Jan Verheijen, Andrew C. Giles, Sean Williams, Maya Chopra, Laura V. Croft, Hormos Salimi Dafsari, Alice E. Davidson, Jennifer Friedman, Anne Gregor, Bushra Haque, Rosan Lechner, Kylie Montgomery, Mina Ryten, Emil Schober, Gabriele Siegel, Patricia J. Sullivan, Ella F. Whittle, Bianca Zardetto, Timothy W. Yu, Matthis Synofzik, Annemieke Aartsma‐Rus, Gregory Costain, Marlen C. Lauffer

    Vydáno 2025
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  12. 12
    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients Autor Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville‐Heygate, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas Andrew Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie Van der Aa, R. Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Álvarez, Alberto Fernández‐Jaén, Frank T. McGehee, Katherine Selby, Maja Tarailo‐Graovac, Margot Van Allen, Clara van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo W. Y. Chu, Brian Hon‐Yin Chung, Bert B.A. de Vries, Koenraad Devriendt, Matthew E. Hurles, Han G. Brunner

    Vydáno 2016
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  13. 13
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder Autor Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Vydáno 2018
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  14. 14
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Autor Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    Vydáno 2017
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  15. 15
    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Autor Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horváth, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege Marie Schnelle, Siren Berland, Evelien Zonneveld‐Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Schrier Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julián A. Martínez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana Johnson, Katja Venborg Pedersen, Lone Walentin Laulund, Sally Ann Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

    Vydáno 2019
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