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There are 26304 results for: content related to: Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

  1. You have full text access to this OnlineOpen article
    Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 203–214, Isabel Marques, Maria João Sá, Gabriela Soares, Maria do Céu Mota, Carla Pinheiro, Lisa Aguiar, Marta Amado, Christina Soares, Angelina Calado, Patrícia Dias, Ana Berta Sousa, Ana Maria Fortuna, Rosário Santos, Katherine B. Howell, Monique M. Ryan, Richard J Leventer, Rani Sachdev, Rachael Catford, Kathryn Friend, Tessa R. Mattiske, Cheryl Shoubridge and Paula Jorge

    Article first published online : 25 FEB 2015, DOI: 10.1002/mgg3.133

  2. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 510–522, T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge and J Gecz

    Article first published online : 18 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01685.x

  3. You have free access to this content
    A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females


    Volume 52, Issue 5, May 2011, Pages: 984–992, Yaman Z. Ekşioğlu, Amanda W. Pong and Masanori Takeoka

    Article first published online : 22 MAR 2011, DOI: 10.1111/j.1528-1167.2011.02980.x

  4. The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain

    Journal of Comparative Neurology

    Volume 483, Issue 3, 14 March 2005, Pages: 292–303, Inma Cobos, Vania Broccoli and John L.R. Rubenstein

    Article first published online : 28 JAN 2005, DOI: 10.1002/cne.20405

  5. A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1655–1660, Orit Reish, Tod Fullston, Miriam Regev, Eli Heyman and Jozef Gecz

    Article first published online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32842

  6. Mutation screening of the ARX gene in patients with autism

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 2, 5 March 2007, Pages: 228–230, Pauline Chaste, Gudrun Nygren, Henrik Anckarsäter, Maria Råstam, Mary Coleman, Marion Leboyer, Christopher Gillberg and Catalina Betancur

    Article first published online : 16 OCT 2006, DOI: 10.1002/ajmg.b.30440

  7. ArxA, a new clade of arsenite oxidase within the DMSO reductase family of molybdenum oxidoreductases

    Environmental Microbiology

    Volume 14, Issue 7, July 2012, Pages: 1635–1645, Kamrun Zargar, Alison Conrad, David L. Bernick, Todd M. Lowe, Viktor Stolc, Shelley Hoeft, Ronald S. Oremland, John Stolz and Chad W. Saltikov

    Article first published online : 9 MAR 2012, DOI: 10.1111/j.1462-2920.2012.02722.x

  8. Familial Ohtahara syndrome due to a novel ARX gene mutation

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3133–3137, L. Giordano, S. Sartori, S. Russo, P. Accorsi, J. Galli, A. Tiberti, E. Bettella, M. Marchi, A. Vignoli, F. Darra, A. Murgia and B. Dalla Bernardina

    Article first published online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33701

  9. You have free access to this content
    Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development

    Developmental Dynamics

    Volume 232, Issue 2, February 2005, Pages: 313–324, Daniel W. Seufert, Nichole L. Prescott and Heithem M. El-Hodiri

    Article first published online : 21 DEC 2004, DOI: 10.1002/dvdy.20234

  10. Whole ARX gene duplication is compatible with normal intellectual development

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2324–2327, Cornel Popovici, Tiffany Busa, Odile Boute, Ann-Charlotte Thuresson, Odile Perret, Sabine Sigaudy, Tommy Södergren, Joris Andrieux, Anne Moncla and Nicole Philip

    Article first published online : 7 JUL 2014, DOI: 10.1002/ajmg.a.36564

  11. Clinical study of two brothers with a novel 33 bp duplication in the ARX gene

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1482–1486, Michelle K. Demos, Tod Fullston, Michael W. Partington, Jozef Gécz and William T. Gibson

    Article first published online : 8 JUN 2009, DOI: 10.1002/ajmg.a.32851

  12. You have free access to this content
    Frameshift mutations of the ARX gene in familial Ohtahara syndrome


    Volume 51, Issue 9, September 2010, Pages: 1679–1684, Mitushiro Kato, Norihisa Koyama, Masayasu Ohta, Kiyokuni Miura and Kiyoshi Hayasaka

    Article first published online : 2 APR 2010, DOI: 10.1111/j.1528-1167.2010.02559.x

  13. Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1472–1476, Renske Oegema, Anneke Maat-Kievit, Maarten H. Lequin, Rachel Schot, Veerle M.H. Nanninga- van den Neste, Marianne E. Doornbos, Marie C.Y. de Wit, Dicky J. Halley and Grazia M.S. Mancini

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35365

  14. The ARX mutations: A frequent cause of X-linked mental retardation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 727–732, Magdalena Nawara, Krzysztof Szczaluba, Karine Poirier, Krystyna Chrzanowska, Jacek Pilch, Jerzy Bal, Jamel Chelly and Tadeusz Mazurczak

    Article first published online : 7 MAR 2006, DOI: 10.1002/ajmg.a.31151

  15. Westward Ho! Pioneering Mouse Models for X-Linked Infantile Spasms Syndrome

    Epilepsy Currents

    Volume 10, Issue 1, January/February 2010, Pages: 24–27, Janice R. Naegele

    Article first published online : 8 JAN 2010, DOI: 10.1111/j.1535-7511.2009.01343.x

  16. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 98–105, Mireille Cossée, Laurence Faivre, Christophe Philippe, Heifa Hichri, Anne de Saint-Martin, Vincent Laugel, Nadia Bahi-Buisson, Jean-François Lemaitre, Bruno Leheup, Bruno Delobel, Bénédicte Demeer, Karine Poirier, Valérie Biancalana, Jean-Michel Pinoit, Sophie Julia, Jamel Chelly, Didier Devys and Jean-Louis Mandel

    Article first published online : 28 DEC 2010, DOI: 10.1002/ajmg.a.33785

  17. You have free access to this content
    A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

    Developmental Medicine & Child Neurology


    Article first published online : 11 SEP 2009, DOI: 10.1111/j.1469-8749.2009.03470.x

  18. Three new families with X-linked mental retardation caused by the 428–451dup(24bp) mutation in ARX

    Clinical Genetics

    Volume 66, Issue 1, July 2004, Pages: 39–45, MW Partington, G Turner, J Boyle and J Gécz

    Article first published online : 5 MAY 2004, DOI: 10.1111/j.0009-9163.2004.00268.x

  19. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Article first published online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  20. The role of ARX in cortical development

    European Journal of Neuroscience

    Volume 23, Issue 4, February 2006, Pages: 869–876, Gaëlle Friocourt, Karine Poirier, Sonja Rakić, John G. Parnavelas and Jamel Chelly

    Article first published online : 2 MAR 2006, DOI: 10.1111/j.1460-9568.2006.04629.x