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There are 2516919 results for: content related to: Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

  1. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 372–379, Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, Astrid Nümann, Marie-Luise Ipach, Natalja Damatova, Thomas Haaf, Andreas Dufke, Olaf Riess and Ute Moog

    Article first published online : 28 OCT 2010, DOI: 10.1002/ajmg.a.33656

  2. IL1RAPL1 controls inhibitory networks during cerebellar development in mice

    European Journal of Neuroscience

    Volume 30, Issue 8, October 2009, Pages: 1476–1486, Frédéric Gambino, Marie Kneib, Alice Pavlowsky, Henriette Skala, Stéphane Heitz, Nicolas Vitale, Bernard Poulain, Malik Khelfaoui, Jamel Chelly, Pierre Billuart and Yann Humeau

    Article first published online : 7 OCT 2009, DOI: 10.1111/j.1460-9568.2009.06975.x

  3. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 5, 1 March 2006, Pages: 482–487, Elisabetta Tabolacci, M. Grazia Pomponi, Roberta Pietrobono, Alessandra Terracciano, Pietro Chiurazzi and Giovanni Neri

    Article first published online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31107

  4. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3167–3172, Magdalena Nawara, Jakub Klapecki, Katarzyna Borg, Marta Jurek, Sarah Moreno, Jolanta Tryfon, Jerzy Bal, Jamel Chelly and Tadeusz Mazurczak

    Article first published online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32613

  5. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1381–1385, Chiara Barone, Sebastiano Bianca, Daniela Luciano, Daniela Di Benedetto, Mirella Vinci and Marco Fichera

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35860

  6. A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families

    Autism Research

    Volume 3, Issue 2, April 2010, Pages: 47–52, Kristina Allen-Brady, Dale Cannon, Reid Robison, William M. McMahon and Hilary Coon

    Article first published online : 26 MAR 2010, DOI: 10.1002/aur.119

  7. No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set

    Autism Research

    Volume 4, Issue 4, August 2011, Pages: 293–296, Kristina Allen-Brady, Guiqing Cai, Dale Cannon, Reid Robison, William M. McMahon, Hilary Coon and Joseph D. Buxbaum

    Article first published online : 12 APR 2011, DOI: 10.1002/aur.195

  8. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 94–96, SS Bhat, S Ladd, F Grass, JE Spence, CK Brasington, RJ Simensen, CE Schwartz, BR DuPont, RE Stevenson and AK Srivastava

    Article first published online : 15 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00920.x

  9. You have free access to this content
    IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1

    Human Mutation

    Volume 24, Issue 3, September 2004, Page: 273, Yao-Hua Zhang, Bing-Ling Huang, Kathy K. Niakan, Linda L. McCabe, Edward R.B. McCabe and Katrina M. Dipple

    Article first published online : 29 JUL 2004, DOI: 10.1002/humu.9269

  10. Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 904–915, Laura Thorson, Christine Bryke, Gregory Rice, Amber Artzer, Christine Schilz, Jamie Israel, Suzanne Huber, Jennifer Laffin and Gordana Raca

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33340

  11. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2386–2396, Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf and Andrew J. Carroll

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34177

  12. You have free access to this content
    X-linked mental retardation: focus on synaptic function and plasticity

    Journal of Neurochemistry

    Volume 109, Issue 1, April 2009, Pages: 1–14, Yann Humeau, Frédéric Gambino, Jamel Chelly and Nicolas Vitale

    Article first published online : 13 JAN 2009, DOI: 10.1111/j.1471-4159.2009.05881.x

  13. Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)

    Autism Research

    Volume 4, Issue 3, June 2011, Pages: 228–233, Katri Kantojärvi, Ilona Kotala, Karola Rehnström, Tero Ylisaukko-oja, Raija Vanhala, Taina Nieminen von Wendt, Lennart von Wendt and Irma Järvelä

    Article first published online : 22 FEB 2011, DOI: 10.1002/aur.187

  14. An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 7, July 2013, Pages: 467–470, Lingqian Wu, Jing Liu, Weigang Lv, Juan Wen, Yan Xia and Desheng Liang

    Article first published online : 4 JUL 2013, DOI: 10.1002/bdra.23118

  15. You have free access to this content
    Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders

    Journal of Neurochemistry

    Volume 126, Issue 2, July 2013, Pages: 165–182, Peter Penzes, Andres Buonanno, Maria Passafaro, Carlo Sala and Robert A. Sweet

    Article first published online : 22 MAY 2013, DOI: 10.1111/jnc.12261

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    Lay abstracts

    Autism Research

    Volume 4, Issue 4, August 2011, Pages: 311–313,

    Article first published online : 5 AUG 2011, DOI: 10.1002/aur.212

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    Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 197–206, Chiara Verpelli, Ivan Galimberti, Baltazar Gomez-Mancilla and Carlo Sala

    Article first published online : 19 JUL 2013, DOI: 10.1002/dneu.22093

  18. Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

    American Journal of Medical Genetics Part A

    Cécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, Cornel Popovici, Chantal Missirian, Mathieu Milh, André Mégarbané, Tiffany Busa, Sophie Julia, Nadine Girard, Catherine Badens, Sabine Sigaudy, Nicole Philip and Laurent Villard

    Article first published online : 9 MAY 2014, DOI: 10.1002/ajmg.a.36602

  19. X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

    Clinical Genetics

    Volume 62, Issue 6, December 2002, Pages: 423–432, SGM Frints, G Froyen, P Marynen and J-P Fryns

    Article first published online : 13 DEC 2002, DOI: 10.1034/j.1399-0004.2002.620601.x

  20. You have full text access to this OnlineOpen article
    Antibiosis against the green peach aphid requires the Arabidopsis thaliana MYZUS PERSICAE-INDUCED LIPASE1 gene

    The Plant Journal

    Volume 64, Issue 5, December 2010, Pages: 800–811, Joe Louis, Katarzyna Lorenc-Kukula, Vijay Singh, John Reese, Georg Jander and Jyoti Shah

    Article first published online : 26 OCT 2010, DOI: 10.1111/j.1365-313X.2010.04378.x