Search Results

There are 40193 results for: content related to: Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures

  1. Differential expression of protocadherin-19, protocadherin-17, and cadherin-6 in adult zebrafish brain

    Journal of Comparative Neurology

    Volume 523, Issue 9, 15 June 2015, Pages: 1419–1442, Qin Liu, Sunil Bhattarai, Nan Wang and Alicja Sochacka-Marlowe

    Version of Record online : 7 APR 2015, DOI: 10.1002/cne.23746

  2. PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 627–634, Christel Depienne and Eric LeGuern

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22029

  3. You have full text access to this OnlineOpen article
    The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population

    Clinical Genetics

    Volume 91, Issue 1, January 2017, Pages: 54–62, A. Liu, X. Xu, X. Yang, Y. Jiang, Z. Yang, X. Liu, Y. Wu, X. Wu, L. Wei and Y. Zhang

    Version of Record online : 7 NOV 2016, DOI: 10.1111/cge.12846

  4. Expression of delta-protocadherins in the spinal cord of the chicken embryo

    Journal of Comparative Neurology

    Volume 520, Issue 7, 1 May 2012, Pages: 1509–1531, Juntang Lin, Congrui Wang and Christoph Redies

    Version of Record online : 6 MAR 2012, DOI: 10.1002/cne.22808

  5. You have free access to this content
    Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy

    Epilepsia

    Volume 53, Issue 12, December 2012, Pages: 2111–2119, Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina and Renzo Guerrini

    Version of Record online : 4 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03649.x

  6. You have free access to this content
    Identification of Four Novel PCDH19 Mutations and Prediction of Their Functional Impact

    Annals of Human Genetics

    Volume 78, Issue 6, November 2014, Pages: 389–398, Emanuela Leonardi, Stefano Sartori, Marilena Vecchi, Elisa Bettella, Roberta Polli, Luca De Palma, Clementina Boniver and Alessandra Murgia

    Version of Record online : 17 SEP 2014, DOI: 10.1111/ahg.12082

  7. You have full text access to this OnlineOpen article
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Human Mutation

    Volume 32, Issue 1, January 2011, Pages: E1959–E1975, Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou and Eric LeGuern

    Version of Record online : 4 NOV 2010, DOI: 10.1002/humu.21373

  8. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 10, October 2010, Pages: 2475–2481, Seema M. Jamal, Raveen K. Basran, Stephanie Newton, Zhenyuan Wang and Jeff M. Milunsky

    Version of Record online : 9 SEP 2010, DOI: 10.1002/ajmg.a.33611

  9. Cadherin expression delineates the divisions of the postnatal and adult mouse amygdala

    Journal of Comparative Neurology

    Volume 520, Issue 17, 1 December 2012, Pages: 3982–4012, Nicole Hertel, Christoph Redies and Loreta Medina

    Version of Record online : 1 OCT 2012, DOI: 10.1002/cne.23140

  10. Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy

    Epileptic Disorders

    Volume 18, Issue 1, March 2016, Pages: 26–33, Hiroko Ikeda, Katsumi Imai, Hitoshi Ikeda, Hideo Shigematsu, Yukitoshi Takahashi, Yushi Inoue, Norimichi Higurashi and Shinichi Hirose

    Version of Record online : 15 MAR 2016, DOI: 10.1684/epd.2016.0803

  11. You have free access to this content
    Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection–related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation

    Epilepsia

    Volume 52, Issue 11, November 2011, Pages: e172–e175, Nicola Specchio, Lucia Fusco and Federico Vigevano

    Version of Record online : 21 JUL 2011, DOI: 10.1111/j.1528-1167.2011.03193.x

  12. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1585–1589, Isabelle Thiffault, Emily Farrow, Laurie Smith, Jennifer Lowry, Lee Zellmer, Benjamin Black, Ahmed Abdelmoity, Neil Miller, Sarah Soden and Carol Saunders

    Version of Record online : 26 MAR 2016, DOI: 10.1002/ajmg.a.37617

  13. PCDH19-related epilepsy in two mosaic male patients

    Epilepsia

    Volume 57, Issue 3, March 2016, Pages: e51–e55, Alessandra Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano and Nicola Specchio

    Version of Record online : 14 JAN 2016, DOI: 10.1111/epi.13295

  14. You have free access to this content
    My epilepsy story—PCDH19 Alliance

    Epilepsia

    Volume 55, Issue 7, July 2014, Pages: 968–969, Julie Walters, Karin Wells-Kilpatrick and Trista Pandeleos

    Version of Record online : 4 MAR 2014, DOI: 10.1111/epi.12555

  15. Molecular Genetics of Dravet Syndrome

    Standard Article

    eLS

    Sarah Weckhuysen, Arvid Suls and Peter Jonghe

    Published Online : 15 MAR 2012, DOI: 10.1002/9780470015902.a0023846

  16. You have free access to this content
    Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

    Epilepsia

    Volume 52, Issue 7, July 2011, Pages: 1251–1257, Nicola Specchio, Carla Marini, Alessandra Terracciano, Davide Mei, Marina Trivisano, Federico Sicca, Lucia Fusco, Raffaella Cusmai, Francesca Darra, Bernardo Dalla Bernardina, Enrico Bertini, Renzo Guerrini and Federico Vigevano

    Version of Record online : 11 APR 2011, DOI: 10.1111/j.1528-1167.2011.03063.x

  17. You have free access to this content
    Protocadherin-17 function in Zebrafish retinal development

    Developmental Neurobiology

    Volume 73, Issue 4, April 2013, Pages: 259–273, Yun Chen, Richard Londraville, Sarah Brickner, Lana El-Shaar, Kelsee Fankhauser, Cassandra Dearth, Leah Fulton, Alicja Sochacka, Sunil Bhattarai, James A. Marrs and Qin Liu

    Version of Record online : 24 JAN 2013, DOI: 10.1002/dneu.22053

  18. You have free access to this content
    Molecular genetics of Dravet syndrome

    Developmental Medicine & Child Neurology

    Volume 53, Issue s2, April 2011, Pages: 7–10, PETER DE JONGHE

    Version of Record online : 19 APR 2011, DOI: 10.1111/j.1469-8749.2011.03965.x

  19. You have free access to this content
    Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations

    Developmental Medicine & Child Neurology

    Volume 54, Issue 12, December 2012, Pages: 1144–1148, SILKE APPENZELLER, INGO HELBIG, ULRICH STEPHANI, MARTIN HÄUSLER, GERHARD KLUGER, MAY BUNGEROTH, STEFANIE MÜLLER, GREGOR KUHLENBÄUMER and ANDREAS VAN BAALEN

    Version of Record online : 15 OCT 2012, DOI: 10.1111/j.1469-8749.2012.04435.x

  20. A cadherin-based code for the divisions of the mouse basal ganglia

    Journal of Comparative Neurology

    Volume 508, Issue 4, 1 June 2008, Pages: 511–528, Nicole Hertel, Krishna-K, Monique Nuernberger and Christoph Redies

    Version of Record online : 28 MAR 2008, DOI: 10.1002/cne.21696