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There are 2850 results for: content related to: Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

  1. Schizencephaly: Heterogeneous etiologies in a population of 4 million California births

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 181–189, Cynthia J. Curry, Edward J. Lammer, Verne Nelson and Gary M. Shaw

    Version of Record online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30862

  2. EMX2-independent familial schizencephaly: Clinical and genetic analyses

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 2, 1 June 2005, Pages: 166–170, Ian Tietjen, Füsun Erdogan, Sophie Currier, Kira Apse, Bernard S. Chang, R. Sean Hill, Christine K. Lee and Christopher A. Walsh

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30734

  3. You have free access to this content
    Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study

    Ultrasound in Obstetrics & Gynecology

    Volume 39, Issue 1, January 2012, Pages: 75–82, D. T. Howe, J. Rankin and E. S. Draper

    Version of Record online : 5 DEC 2011, DOI: 10.1002/uog.9069

  4. Comprehensive EMX2 genotyping of a large schizencephaly case series

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1313–1316, Ian Tietjen, Adria Bodell, Kira Apse, Ashley M. Mendonza, Bernard S. Chang, Gary M. Shaw, A. James Barkovich, Edward J. Lammer and Christopher A. Walsh

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31767

  5. Postnatal evaluation of schizencephaly by transfontanellar three-dimensional sonography

    Journal of Clinical Ultrasound

    Volume 35, Issue 6, July/August 2007, Pages: 351–355, Edward Araujo Júnior, Alexis Paiva Leite, Cláudio Rodrigues Pires, Hélio Antonio Guimarães Filho, Sebastião Marques Zanforlin Filho, Luciano Marcondes Machado Nardozza and Antonio Fernades Moron

    Version of Record online : 4 APR 2007, DOI: 10.1002/jcu.20285

  6. Schizencephaly: Neuroradiologic and Epileptologic Findings

    Epilepsia

    Volume 37, Issue 12, December 1996, Pages: 1185–1193, Tiziana Granata, Giorgio Battaglia, Ludovico D'Incerti, Silvana Franceschetti, Roberto Spreafico, Dina Battino, Mario Savoiardo and Giuliano Avanzini

    Version of Record online : 3 AUG 2005, DOI: 10.1111/j.1528-1157.1996.tb00551.x

  7. You have full text access to this OnlineOpen article
    Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 11, November 2010, Pages: 2736–2742, Cecilia Mellado, Annapurna Poduri, Danielle Gleason, Princess C. Elhosary, Brenda J. Barry, Jennifer N. Partlow, Bernard S. Chang, Gary M. Shaw, A. James Barkovich and Christopher A. Walsh

    Version of Record online : 14 OCT 2010, DOI: 10.1002/ajmg.a.33684

  8. Bilateral inferior insertion of lateral rectus muscles associated with schizencephaly

    Clinical & Experimental Ophthalmology

    Volume 28, Issue 1, February 2000, Pages: 69–71, Steven B Wine, Nick Saad and Meaghan E Vella

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1442-9071.2000.00279.x

  9. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 106, Issue 4, April 2016, Pages: 304–307, Robert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, Hirofumi Kodera, Marek J. Sasiadek, Naomichi Matsumoto, Maria M. Sasiadek and Hirotomo Saitsu

    Version of Record online : 16 FEB 2016, DOI: 10.1002/bdra.23488

  10. Schizencephaly: Prenatal diagnosis by computed sonography and magnetic resonance imaging

    Prenatal Diagnosis

    Volume 9, Issue 9, September 1989, Pages: 649–655, M. Lituania, U. Passamonti, M. S. Cordone, G. M. Magnano and P. Toma

    Version of Record online : 21 NOV 2005, DOI: 10.1002/pd.1970090908

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    A Sibling of a Patient with Familial Schizencephaly with Epileptic Spasms

    Epilepsia

    Volume 41, Issue s9, September 2000, Pages: 70–71, Shigeru Kimura, Kikuo Sakemi and Masahiro Makuta

    Version of Record online : 2 AUG 2005, DOI: 10.1111/j.1528-1157.2000.tb02272.x

  12. You have free access to this content
    Prenatal diagnosis of schizencephaly.

    Journal of Ultrasound in Medicine

    Volume 9, Issue 5, May 1990, Pages: 305–307, C A Komarniski, D R Cyr, L A Mack and E Weinberger

    Version of Record online : 1 MAY 1990, DOI: 10.7863/jum.1990.9.5.305

  13. Malformations of Cortical Development

    Brain Pathology

    Volume 22, Issue 3, May 2012, Pages: 380–401, Eleonora Aronica, Albert J. Becker and Roberto Spreafico

    Version of Record online : 12 APR 2012, DOI: 10.1111/j.1750-3639.2012.00581.x

  14. You have free access to this content
    Prenatal diagnosis of schizencephaly after inhalation of organic solvents

    Ultrasound in Obstetrics & Gynecology

    Volume 29, Issue 3, March 2007, Pages: 356–357, I. Witters, M. Cannie, P. Casaer, K. Devriendt and J.-P. Fryns

    Version of Record online : 23 FEB 2007, DOI: 10.1002/uog.3939

  15. Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging

    Journal of Obstetrics and Gynaecology Research

    Volume 34, Issue 4pt2, August 2008, Pages: 674–679, Jeng-Hsiu Hung, Shu-Huei Shen, Wan-You Guo, Chih-Yao Chen, Kuan-Chong Chao, Ming-Jie Yang and Chia-Yi Selena Hung

    Version of Record online : 22 SEP 2008, DOI: 10.1111/j.1447-0756.2008.00905.x

  16. Prenatal diagnosis of schizencephaly with 2D-3D sonography and MRI

    Journal of Clinical Ultrasound

    Volume 37, Issue 8, October 2009, Pages: 467–470, Ali Gedikbasi, Gokhan Yildirim, Sezin Saygi, Oguz Arslan, Ahmet Gul and Yavuz Ceylan

    Version of Record online : 17 JUN 2009, DOI: 10.1002/jcu.20589

  17. Familial Schizencephaly

    Developmental Medicine & Child Neurology

    Volume 33, Issue 11, November 1991, Pages: 1010–1012, Richard O. Robinson

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1991.tb14817.x

  18. Cytomegalovirus infection and schizencephaly: Case reports

    Annals of Neurology

    Volume 43, Issue 1, January 1998, Pages: 123–127, Dr Paola Iannetti, Giovanni Nigro, Alberto Spalice, Antonio Faiella and Edoardo Boncinelli

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410430122

  19. No major role for the EMX2 gene in schizencephaly

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1142–1150, Elisa Merello, Eric Swanson, Patrizia De Marco, Murtaza Akhter, Pasquale Striano, Andrea Rossi, Armando Cama, Richard J. Leventer, Renzo Guerrini, Valeria Capra and William B. Dobyns

    Version of Record online : 11 APR 2008, DOI: 10.1002/ajmg.a.32264

  20. Delayed-onset dystonia secondary to unilateral schizencephaly

    Movement Disorders

    Volume 11, Issue 2, March 1996, Pages: 221–222, Joseph H. Friedman and William Stone

    Version of Record online : 4 NOV 2004, DOI: 10.1002/mds.870110218