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There are 11916 results for: content related to: Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

  1. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 924–933, Daisuke Fukushi, Kenichiro Yamada, Noriko Nomura, Misako Naiki, Reiko Kimura, Yasukazu Yamada, Toshiyuki Kumagai, Kumiko Yamaguchi, Yoshishige Miyake and Nobuaki Wakamatsu

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36373

  2. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 116–129, Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, Valérie Malan, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Patrick Callier, Mathilde Lefebvre, Nathalie Marle, Christèle Dubourg, Sophie Julia, Catherine Sarret, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Cédric Le Caignec, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Alice Goldenberg, Valérie Cormier-Daire, Marlène Rio, Jean-Paul Bonnefont, Julien Thevenon, Bernard Echenne, Hubert Journel, Alexandra Afenjar, Lydie Burglen, Thierry Bienvenu, Marie-Claude Addor, Sébastien Lebon, Danièle Martinet, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Françoise Devillard, Charles Coutton, Didier Lacombe, Marie-Ange Delrue, Nicole Philip, Anne Moncla, Catherine Badens, Nathalie Perreton, Alice Masurel, Christel Thauvin-Robinet, Vincent Des Portes and Laurent Guibaud

    Version of Record online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37384

  3. 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

  4. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1292–1303, Shozo Honda, Shin Hayashi, Takaya Nakane, Issei Imoto, Kenji Kurosawa, Seiji Mizuno, Nobuhiko Okamoto, Mitsuhiro Kato, Hiroshi Yoshihashi, Takeo Kubota, Eiji Nakagawa, Yu-ichi Goto and Johji Inazawa

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35321

  5. Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 305–312, Oliver Bartsch, Konstanze Gebauer, Stanislav Lechno, Hilde van Esch, Guy Froyen, Michael Bonin, Jörg Seidel, Barbara Thamm-Mücke, Denise Horn, Eva Klopocki, Christoph Hertzberg, Ulrich Zechner and Thomas Haaf

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33198

  6. Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1285–1291, Jennifer N. Sanmann, Danielle L. Bishay, Lois J. Starr, Carla A. Bell, Diane L. Pickering, Jadd M. Stevens, Stephen G. Kahler, Ann Haskins Olney, G. Bradley Schaefer and Warren G. Sanger

    Version of Record online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35347

  7. MECP2 duplication: Possible cause of severe phenotype in females

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1029–1034, Jessica Scott Schwoerer, Jennifer Laffin, Joanne Haun, Gordana Raca, Michael J. Friez and Philip F. Giampietro

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36380

  8. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1638–1646, Christopher A. Chapleau, Jane Lane, Susan M. Kirwin, Carolyn Schanen, Kathy M.B. Vinette, Danielle Stubbolo, Patrick MacLeod and Alan K. Percy

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35979

  9. You have free access to this content
    Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

    Epilepsia

    Volume 53, Issue 7, July 2012, Pages: 1146–1155, Aglaia Vignoli, Renato Borgatti, Angela Peron, Claudio Zucca, Lucia Ballarati, Clara Bonaglia, Melissa Bellini, Lucio Giordano, Romina Romaniello, Maria Francesca Bedeschi, Roberta Epifanio, Silvia Russo, Rossella Caselli, Daniela Giardino, Francesca Darra, Francesca La Briola, Giuseppe Banderali and Maria Paola Canevini

    Version of Record online : 11 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03501.x

  10. 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

  11. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

    Clinical Genetics

    Volume 78, Issue 2, August 2010, Pages: 175–180, P Makrythanasis, I Moix, S Gimelli, J Fluss, K Aliferis, SE Antonarakis, MA Morris, F Béna and A Bottani

    Version of Record online : 5 JAN 2010, DOI: 10.1111/j.1399-0004.2010.01371.x

  12. MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype–genotype correlation

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 2, 1 December 2003, Pages: 129–139, Marie Gomot, Chantal Gendrot, Alain Verloes, Martine Raynaud, Albert David, Helger G. Yntema, Sabine Dessay, Vera Kalscheuer, Suzanne Frints, Philippe Couvert, Sylvain Briault, Sophie Blesson, Annick Toutain, Jamel Chelly, Vincent Desportes and Claude Moraine

    Version of Record online : 29 MAY 2003, DOI: 10.1002/ajmg.a.20247

  13. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 576–588, S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

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    Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus

    Arthritis & Rheumatism

    Volume 60, Issue 4, April 2009, Pages: 1076–1084, Ryan Webb, Jonathan D. Wren, Matlock Jeffries, Jennifer A. Kelly, Kenneth M. Kaufman, Yuhong Tang, Mark Barton Frank, Joan Merrill, Robert P. Kimberly, Jeffrey C. Edberg, Rosalind Ramsey-Goldman, Michelle Petri, John D. Reveille, Graciela S. Alarcón, Luis M. Vilá, Marta E. Alarcón-Riquelme, Judith A. James, Timothy J. Vyse, Kathy L. Moser, Patrick M. Gaffney, Gary S. Gilkeson, John B. Harley and Amr H. Sawalha

    Version of Record online : 30 MAR 2009, DOI: 10.1002/art.24360

  15. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 147B, Issue 6, 5 September 2008, Pages: 799–806, M. Smyk, E. Obersztyn, B. Nowakowska, M. Nawara, S.W. Cheung, T. Mazurczak, P. Stankiewicz and E. Bocian

    Version of Record online : 28 DEC 2007, DOI: 10.1002/ajmg.b.30683

  16. Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

    Journal of Comparative Neurology

    Volume 501, Issue 4, 1 April 2007, Pages: 526–542, Joanna M. Dragich, Yong-Hwan Kim, Arthur P. Arnold and N. Carolyn Schanen

    Version of Record online : 2 FEB 2007, DOI: 10.1002/cne.21264

  17. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1795–1801, Erica F. Andersen, Erin E. Baldwin, Sara Ellingwood, Rosemarie Smith and Allen N. Lamb

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36524

  18. You have full text access to this OnlineOpen article
    Familial cases and male cases with MECP2 mutations

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 174, Issue 4, June 2017, Pages: 451–457, Qingping Zhang, Ying Zhao, Xinhua Bao, Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei and Xiru Wu

    Version of Record online : 10 APR 2017, DOI: 10.1002/ajmg.b.32534

  19. Expanding the clinical picture of the MECP2 Duplication syndrome

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 557–563, Z. Lim, J. Downs, K. Wong, C. Ellaway and H. Leonard

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12814

  20. An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

    Clinical Genetics

    Volume 77, Issue 6, June 2010, Pages: 593–597, B Auber, P Burfeind, C Thiels, EA Alsat, M Shoukier, T Liehr, H Nelle, I Bartels, G Salinas-Riester and F Laccone

    Version of Record online : 1 MAR 2010, DOI: 10.1111/j.1399-0004.2009.01363.x