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There are 17776 results for: content related to: What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

  1. The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

    Autism Research

    Volume 5, Issue 6, December 2012, Pages: 385–397, Holly N. Cukier, Joycelyn M. Lee, Deqiong Ma, Juan I. Young, Vera Mayo, Brittany L. Butler, Sandhya S. Ramsook, Joseph A. Rantus, Alexander J. Abrams, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Jonathan L. Haines, Michael L. Cuccaro, Margaret A. Pericak-Vance and John R. Gilbert

    Version of Record online : 10 OCT 2012, DOI: 10.1002/aur.1251

  2. You have full text access to this OnlineOpen article
    MicroRNAs downregulated in neuropathic pain regulate MeCP2 and BDNF related to pain sensitivity

    FEBS Open Bio

    Volume 5, Issue 1, January 01, 2015, Pages: 733–740, Melissa T. Manners, Yuzhen Tian, Zhaolan Zhou and Seena K. Ajit

    Version of Record online : 31 AUG 2015, DOI: 10.1016/j.fob.2015.08.010

  3. You have free access to this content
    Evidence for abnormal early development in a mouse model of Rett syndrome

    Genes, Brain and Behavior

    Volume 6, Issue 3, April 2007, Pages: 277–286, M. Santos, A. Silva-Fernandes, P. Oliveira, Nuno Sousa and Patrícia Maciel

    Version of Record online : 17 JUL 2006, DOI: 10.1111/j.1601-183X.2006.00258.x

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    Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons

    STEM CELLS

    Volume 30, Issue 10, October 2012, Pages: 2128–2139, Morteza Yazdani, Rubén Deogracias, Jacky Guy, Raymond A. Poot, Adrian Bird and Yves-Alain Barde

    Version of Record online : 20 SEP 2012, DOI: 10.1002/stem.1180

  5. The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism

    Autism Research

    Volume 6, Issue 1, February 2013, Pages: 42–50, Sarika U. Peters, Rachel J. Hundley, Amy K. Wilson, Zachary Warren, Alison Vehorn, Claudia M.B. Carvalho, James R. Lupski and Melissa B. Ramocki

    Version of Record online : 20 NOV 2012, DOI: 10.1002/aur.1262

  6. Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 of Mecp2 knockout mice

    Hippocampus

    Volume 25, Issue 2, February 2015, Pages: 159–168, Gaston Calfa, Wei Li, John M. Rutherford and Lucas Pozzo-Miller

    Version of Record online : 25 SEP 2014, DOI: 10.1002/hipo.22360

  7. The MECP2 duplication syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1079–1088, Melissa B. Ramocki, Y. Jane Tavyev and Sarika U. Peters

    Version of Record online : 2 APR 2010, DOI: 10.1002/ajmg.a.33184

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    Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis

    EMBO reports

    Volume 10, Issue 12, December 2009, Pages: 1327–1333, Giorgia Bracaglia, Barbara Conca, Anna Bergo, Laura Rusconi, Zhaolan Zhou, Michael E Greenberg, Nicoletta Landsberger, Silvia Soddu and Charlotte Kilstrup-Nielsen

    Version of Record online : 9 OCT 2009, DOI: 10.1038/embor.2009.217

  9. Brain region-specific expression of Fxyd1, an Mecp2 target gene, is regulated by epigenetic mechanisms

    Journal of Neuroscience Research

    Volume 89, Issue 6, June 2011, Pages: 840–851, Fatima Banine, Valerie Matagne, Larry S. Sherman and Sergio R. Ojeda

    Version of Record online : 10 MAR 2011, DOI: 10.1002/jnr.22608

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    MeCP2 deficiency is associated with impaired microtubule stability

    FEBS Letters

    Volume 587, Issue 2, January 16, 2013, Pages: 245–253, Chloé Delépine, Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 10 DEC 2012, DOI: 10.1016/j.febslet.2012.11.033

  11. MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 4, 5 June 2007, Pages: 475–483, Ana M. Coutinho, Guiomar Oliveira, Cécile Katz, Jinong Feng, Jin Yan, Chunmei Yang, Carla Marques, Assunção Ataíde, Teresa S. Miguel, Luís Borges, Joana Almeida, Catarina Correia, António Currais, Celeste Bento, Luísa Mota-Vieira, Teresa Temudo, Mónica Santos, Patrícia Maciel, Steve S. Sommer and Astrid M. Vicente

    Version of Record online : 10 APR 2007, DOI: 10.1002/ajmg.b.30490

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    MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits

    Genes, Brain and Behavior

    Volume 12, Issue 7, October 2013, Pages: 732–740, L. R. Schaevitz, N. B. Gómez, D. P. Zhen and J. E. Berger-Sweeney

    Version of Record online : 26 AUG 2013, DOI: 10.1111/gbb.12070

  13. The phenotypic consequences of MECP2 mutations extend beyond rett syndrome

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 8, Issue 2, 2002, Pages: 94–98, Sara Hammer, Naghmeh Dorrani, Joanna Dragich, Shinichi Kudo and Carolyn Schanen

    Version of Record online : 30 MAY 2002, DOI: 10.1002/mrdd.10023

  14. Altered microtubule dynamics in Mecp2-deficient astrocytes

    Journal of Neuroscience Research

    Volume 90, Issue 5, May 2012, Pages: 990–998, Juliette Nectoux, Cedrick Florian, Chloe Delepine, Nadia Bahi-Buisson, Malik Khelfaoui, Sophie Reibel, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 18 JAN 2012, DOI: 10.1002/jnr.23001

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    Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome

    Genes, Brain and Behavior

    Volume 9, Issue 2, March 2010, Pages: 213–223, B. De Filippis, L. Ricceri and G. Laviola

    Version of Record online : 2 NOV 2009, DOI: 10.1111/j.1601-183X.2009.00551.x

  16. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro

    Journal of Neuroscience Research

    Volume 88, Issue 11, 15 August 2010, Pages: 2316–2324, Andreea C. Popescu, Elena Sidorova, Guangming Zhang and James H. Eubanks

    Version of Record online : 13 APR 2010, DOI: 10.1002/jnr.22409

  17. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

    Human Mutation

    Volume 22, Issue 2, August 2003, Pages: 107–115, Gabriel Miltenberger-Miltenyi and Franco Laccone

    Version of Record online : 20 JUN 2003, DOI: 10.1002/humu.10243

  18. Absence of MeCP2 mutations in patients from the South Carolina autism project

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 117B, Issue 1, 15 February 2003, Pages: 97–101, Fe Lobo-Menendez, Khalid Sossey-Alaoui, Jennifer M. Bell, Susan A. Copeland-Yates, Sara M. Plank, Stewart O. Sanford, Cindy Skinner, Richard J. Simensen, Richard J. Schroer and Ron C. Michaelis

    Version of Record online : 2 OCT 2001, DOI: 10.1002/ajmg.b.10016

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    The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells

    Journal of Neurobiology

    Volume 55, Issue 1, April 2003, Pages: 86–96, Benjamin P. Jung, Denis G.M. Jugloff, Guangming Zhang, Richard Logan, Stephanie Brown and James H. Eubanks

    Version of Record online : 5 FEB 2003, DOI: 10.1002/neu.10201

  20. Associations between meCP2 mutations, x-chromosome inactivation, and phenotype

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 8, Issue 2, 2002, Pages: 99–105, K. C. Hoffbuhr, L. M. Moses, M. A. Jerdonek, S. Naidu and E. P. Hoffman

    Version of Record online : 30 MAY 2002, DOI: 10.1002/mrdd.10026