Resultados de búsqueda - Sabine M. Klauck

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  1. 1
    Genetics of autism spectrum disorder

    Genetics of autism spectrum disorder por Sabine M. Klauck

    Publicado 2006
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  2. 2
    Serotonin transporter (5-HTT) gene variants associated with autism?

    Serotonin transporter (5-HTT) gene variants associated with autism? por Sabine M. Klauck

    Publicado 1997
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  3. 3
    The cardiac glycoside ZINC253504760 induces parthanatos-type cell death and G2/M arrest via downregulation of MEK1/2 phosphorylation in leukemia cells

    The cardiac glycoside ZINC253504760 induces parthanatos-type cell death and G2/M arrest via downregulation of MEK1/2 phosphorylation in leukemia cells por Min Zhou, Joelle C. Boulos, Sabine M. Klauck, Thomas Efferth

    Publicado 2023
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  4. 4
    Genetics of autistic disorders: review and clinical implications

    Genetics of autistic disorders: review and clinical implications por Christine M. Freitag, Wouter Staal, Sabine M. Klauck, Eftichia Duketis, Regina Waltes

    Publicado 2009
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  5. 5
    A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

    A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome por Sabine M. Klauck, Susan Lindsay, Kim S. Beyer, Miranda Splitt, John Burn, Annemarie Poustka

    Publicado 2002
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  6. 6
    Cynaropicrin disrupts tubulin and c-Myc-related signaling and induces parthanatos-type cell death in multiple myeloma

    Cynaropicrin disrupts tubulin and c-Myc-related signaling and induces parthanatos-type cell death in multiple myeloma por Joelle C. Boulos, Ejlal A. Omer, Daniela Rigano, Carmen Formisano, Manik Chatterjee, Ellen Leich, Sabine M. Klauck, Letian Shan, Thomas Efferth

    Publicado 2023
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  7. 7
    Inhibition of c-MYC with involvement of ERK/JNK/MAPK and AKT pathways as a novel mechanism for shikonin and its derivatives in killing leukemia cells

    Inhibition of c-MYC with involvement of ERK/JNK/MAPK and AKT pathways as a novel mechanism for shikonin and its derivatives in killing leukemia cells por Qiaoli Zhao, Andreana N. Assimopoulou, Sabine M. Klauck, H Damianakos, İoanna Chinou, Nadine Kretschmer, José-Luis Rı́os, Vassilios P. Papageorgiou, Rudolf Bauer, Thomas Efferth

    Publicado 2015
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  8. 8
    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry por Inês Sousa, Taane G. Clark, Richard Holt, Alistair T. Pagnamenta, Erik J. Mulder, Ruud B. Minderaa, Anthony Bailey, Agatino Battaglia, Sabine M. Klauck, Fritz Poustka, Anthony P. Monaco

    Publicado 2010
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  9. 9
    Analysis of reelin as a candidate gene for autism

    Analysis of reelin as a candidate gene for autism por Elena Bonora, Kim S. Beyer, Janine A. Lamb, Jeremy Parr, Sabine M. Klauck, Axel Benner, Marta Paolucci, Aaron Abbott, Jiannis Ragoussis, Annemarie Poustka, Anthony Bailey, Anthony P. Monaco

    Publicado 2003
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  10. 10
    Linkage and candidate gene studies of autism spectrum disorders in European populations

    Linkage and candidate gene studies of autism spectrum disorders in European populations por Richard Holt, Gabrielle Barnby, Elena Maestrini, Elena Bacchelli, Denise Brocklebank, Inês Sousa, Erik J. Mulder, Katri Kantojärvi, Irma Järvelä, Sabine M. Klauck, Fritz Poustka, Anthony Bailey, Anthony P. Monaco

    Publicado 2010
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  11. 11
    Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

    Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. por Bernd R. Seizinger, Jeremy C. Smith, Michele R. Filling‐Katz, Hartmut P.H. Neumann, J S Green, PeterL Choyke, K M Anderson, Richard N. Freiman, Sabine M. Klauck, Jean M. Whaley

    Publicado 1991
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  12. 12
    A 15q13.3 microdeletion segregating with autism

    A 15q13.3 microdeletion segregating with autism por Alistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J.L. Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony Bailey, Anthony P. Monaco

    Publicado 2008
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  13. 13
    Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

    Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia por Alistair T. Pagnamenta, Elena Bacchelli, Maretha Jonge, Ghazala Mirza, Thomas Scerri, Fiorella Minopoli, Andreas G. Chiocchetti, Kerstin U. Ludwig, Per Hoffmann, Silvia Paracchini, Ernesto Lowy, Denise Harold, Jade Chapman, Sabine M. Klauck, Fritz Poustka, Renske H. Houben, Wouter Staal, Roel A. Ophoff, Michael O’Donovan, Julie Williams, Markus M. Nöthen, Gerd Schulte‐Körne, Panos Deloukas, Jiannis Ragoussis, Anthony Bailey, Elena Maestrini, Anthony P. Monaco

    Publicado 2010
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  14. 14
    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q por Elena Bonora, Janine A. Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S. Beyer, Sabine M. Klauck, F. Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brøndum‐Nielsen, R. M. J. Cotterill, Herman von Engeland, Maretha Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick Bolton, Jeremy Parr, Annemarie Poustka, Anthony Bailey, Anthony P. Monaco

    Publicado 2004
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  15. 15
    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders por Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Råstam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Béatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David Collier, Patrick Bolton, Andreas G. Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana Filipa Sequeira, Bárbara Oliveira, Astrid M. Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zélénika, Marc Delépine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie–Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

    Publicado 2012
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  16. 16
    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium por Anthony Bailey, Amaia Hervás, Nicola Matthews, Sarah Palferman, Simon Wallace, Anne Aubin, Janine Michelotti, Catherine Wainhouse, Katerina Papanikolaou, Michael Rutter, Elena Maestrini, Angela J. Marlow, Daniel E. Weeks, Janine A. Lamb, Clyde Francks, Georgina Kearsley, P Scudder, Anthony P. Monaco, Gillian Baird, Anthony D. Cox, Helen Cockerill, Fleming Nuffield, Ann Le Couteur, T. P. Berney, Hayley Cooper, Tom Kelly, Jonathan Green, Jane Whittaker, Anne Gilchrist, Patrick Bolton, Anne Schönewald, M. G. Daker, Caroline Mackie Ogilvie, Zoe Docherty, Zandra C. Deans, Bryan J. Bolton, Ros Packer, Fritz Poustka, D. Rühl, Gabriele Schmötzer, Sven Bölte, Sabine M. Klauck, Anja Spieler, Annemarie Poustka, Hermán van Engeland, Chantal Kemner, Maretha Jonge, Ineke Den Hartog, Catherine Lord, Edwin H. Cook, Bennett Leventhal, Fred R. Volkmar, David L. Pauls, Ami Klin, Susan L. Smalley, Éric Fombonne, Bernadette Rogé, M. Tauber, Evelyne Arti-Vartayan, Jeanne Fremolle-Kruck., Lennart Pederson, Demetrious Haracopos, Karen Brøndum‐Nielsen, R. M. J. Cotterill

    Publicado 1998
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  17. 17
    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder por Jillian P. Casey, Tiago R. Magalhães, Judith Conroy, Regina Regan, Naisha Shah, Richard Anney, Denis C. Shields, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Patrick Bolton, Thomas Bourgeron, S. Brennan, Phil Cali, Catarina Correia, Christina Corsello, Marc N. Coutanche, Géraldine Dawson, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, S. Foley, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Richard Holt, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Janine A. Lamb, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Catherine Lord, Sabata C. Lund, Elena Maestrini, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Judith Miller, Fiorella Minopoli, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Gudrun Nygren, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Barbara Parrini, Andrew Pickles, Dalila Pinto, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Jiannis Ragoussis, Bernadette Rogé, Michael Rutter, Ana Filipa Sequeira, Latha Soorya, Inês Sousa, Nuala Sykes, Vera Stoppioni, Raffaella Tancredi, M. Tauber, Ann Thompson, Susanne Thomson, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Jacob Vorstman, Simon Wallace, Kai Wang, Thomas H. Wassink, Kathy White, Kirsty Wing

    Publicado 2011
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  18. 18
    Synaptic, transcriptional and chromatin genes disrupted in autism

    Synaptic, transcriptional and chromatin genes disrupted in autism por Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin E. Samocha, A. Ercüment Çiçek, Yan Kou, Li Liu, Menachem Fromer, Susan L. Walker, Tarjinder Singh, Lambertus Klei, Jack A. Kosmicki, Shih‐Chen Fu, Branko Aleksić, Monica Biscaldi, Patrick Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas G. Campbell, Ángel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah Curran, Géraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita‐Laza, Patricia González, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao‐Feng Lin, Avi Ma’ayan, Christian R. Marshall, Alison McInnes, Benjamin M. Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Max Sachse, Stephan Sanders, Chad Schafer, Martin Schulte‐Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li‐San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K. C. Yuen, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum

    Publicado 2014
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  19. 19
    Functional impact of global rare copy number variation in autism spectrum disorders

    Functional impact of global rare copy number variation in autism spectrum disorders por Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge

    Publicado 2010
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  20. 20
    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism por Dexter Hadley, Zhi-liang Wu, Charlly Kao, Akshata Kini, Alisha Mohamed-Hadley, Kelly Thomas, Lyam Vazquez, Haijun Qiu, Frank Mentch, Renata Pellegrino, Cecilia Kim, John J. Connolly, Dalila Pinto, Alison Merikangas, Lambertus Klei, Jacob Vorstman, Ann Thompson, Regina Regan, Alistair T. Pagnamenta, Bárbara Oliveira, Tiago R. Magalhães, John R. Gilbert, Eftichia Duketis, Maretha Jonge, Michael L. Cuccaro, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Simon Wallace, Hermán van Engeland, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Suma Jacob, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, Joana Almeida, Cátia Café, Susana Mouga, Catarina Correia, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur

    Publicado 2014
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