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There are 15016 results for: content related to: 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

  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. 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

  3. 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

  4. 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

  5. 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

  6. You have free access to this content
    The phenotypic spectrum of ARX mutations

    Developmental Medicine & Child Neurology

    Volume 47, Issue 2, February 2005, Pages: 133–137, Mohnish Suri

    Article first published online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2005.tb01102.x

  7. 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

  8. 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

    Epilepsia

    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

  9. 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

  10. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 82–85, E Bettella, G Di Rosa, R Polli, E Leonardi, G Tortorella, S Sartori and A Murgia

    Article first published online : 7 NOV 2012, DOI: 10.1111/cge.12034

  11. Expanding the phenotype associated with missense mutations of the ARX gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1813–1816, Agnieszka Charzewska, Magdalena Nawara, Anna Jakubiuk-Tomaszuk, Ewa Obersztyn, Dorota Hoffman-Zacharska, Ewelina Elert, Marta Jurek, Magdalena Bartnik, Jarosław Poznański and Jerzy Bal

    Article first published online : 8 MAY 2013, DOI: 10.1002/ajmg.a.36003

  12. 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

  13. 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

  14. You have free access to this content
    Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

    Developmental Dynamics

    Volume 231, Issue 3, November 2004, Pages: 631–639, Elena Colombo, Rossella Galli, Giulio Cossu, Jozef Gécz and Vania Broccoli

    Article first published online : 16 SEP 2004, DOI: 10.1002/dvdy.20164

  15. 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

  16. 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

  17. 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

  18. ARX spectrum disorders: making inroads into the molecular pathology

    Human Mutation

    Volume 31, Issue 8, August 2010, Pages: 889–900, Cheryl Shoubridge, Tod Fullston and Jozef Gécz

    Article first published online : 17 MAY 2010, DOI: 10.1002/humu.21288

  19. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

    American Journal of Medical Genetics

    Volume 112, Issue 4, 1 November 2002, Pages: 427–428, Suzanna G.M. Frints, Guy Froyen, Peter Marynen, Diane Willekens, Eric Legius and Jean-Pierre Fryns

    Article first published online : 22 APR 2003, DOI: 10.1002/ajmg.10629

  20. 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