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There are 8039796 results for: content related to: Weaver syndrome and defective cortical development: A rare association

  1. Re: Polymicrogyria versus pachygyria in 22q11 microdeletion

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Page: 419, Marie Claire Y. de Wit, Maarten H. Lequin, René F.M. de Coo and Grazia M.S. Mancini

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30741

  2. Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16

    Annals of Neurology

    Volume 53, Issue 5, May 2003, Pages: 596–606, Bernard S. Chang, Xianhua Piao, Adria Bodell, Lina Basel-Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, P. Ellen Grant, A. James Barkovich and Christopher A. Walsh

    Version of Record online : 28 MAR 2003, DOI: 10.1002/ana.10520

  3. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2416–2425, Nathaniel H. Robin, Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean-Pierre Lin, David R. Lynch, Shehla N. Mohammed, Roger F. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc D. Tischkowitz, Neil Stoodley, Richard J Leventer, Daniela T. Pilz and William B. Dobyns

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31443

  4. Epilepsy and genetic malformations of the cerebral cortex

    American Journal of Medical Genetics

    Volume 106, Issue 2, Summer 2001, Pages: 160–173, Renzo Guerrini and Romeo Carrozzo

    Version of Record online : 4 SEP 2001, DOI: 10.1002/ajmg.1569

  5. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 1, 15 February 2003, Pages: 65–71, Marcella Zollino, Cesare Colosimo, Orsetta Zuffardi, Elena Rossi, Alessandra Tosolini, Christopher A. Walsh and Giovanni Neri

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10068

  6. Reply to correspondence to the editor by de Wit et al.—“Re: Polymicrogyria versus pachygyria in 22q11 deletion”

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Page: 421, Hiroaki Ehara, Yoshihiro Maegaki and Kenzo Takeshita

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30743

  7. Autosomal recessive frontotemporal pachygyria

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 3, 30 January 2004, Pages: 231–238, Dorian Ramirez, Edward J. Lammer, Caroline B. Johnson and Cynthia D. Peterson

    Version of Record online : 25 JUN 2003, DOI: 10.1002/ajmg.a.20388

  8. Polymicrogyria versus pachygyria in 22q11 microdeletion

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Page: 420, Bert B.A. de Vries

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30742

  9. Congenital polymicrogyria including the perisylvian region in early childhood

    Congenital Anomalies

    Volume 50, Issue 1, March 2010, Pages: 64–67, Tomoyuki Takano, Kumiko Matsuwake, Seiichirou Yoshioka and Yoshihiro Takeuchi

    Version of Record online : 20 OCT 2009, DOI: 10.1111/j.1741-4520.2009.00253.x

  10. Cell migration and cerebral cortical development

    Neuropathology and Applied Neurobiology

    Volume 27, Issue 1, February 2001, Pages: 22–28, J. A. Golden

    Version of Record online : 21 DEC 2001, DOI: 10.1046/j.0305-1846.2001.00307.x

  11. Invited. Fukuyama congenital muscular dystrophy: A neuroradiologic review

    Journal of Magnetic Resonance Imaging

    Volume 8, Issue 2, March/April 1998, Pages: 317–326, Noriko Aida

    Version of Record online : 17 NOV 2005, DOI: 10.1002/jmri.1880080211

  12. Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2360–2364, Meike Hengst, Jens Tücke, Klaus Zerres, Marcus Blaum and Martin Häusler

    Version of Record online : 20 AUG 2010, DOI: 10.1002/ajmg.a.33577

  13. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 532–540, V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari and A Kumar

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01686.x

  14. X-linked malformations of cortical development

    American Journal of Medical Genetics

    Volume 97, Issue 3, Autumn (Fall) 2000, Pages: 213–220, Richard J. Leventer, Patti L. Mills and William B. Dobyns

    Version of Record online : 12 JAN 2001, DOI: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W

  15. 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

  16. Pachygyria and polymicrogyria in 22q11 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 1, 15 February 2003, Pages: 80–82, Hiroaki Ehara, Yoshihiro Maegaki and Kenzo Takeshita

    Version of Record online : 2 OCT 2002, DOI: 10.1002/ajmg.a.10508

  17. Pachygyria in Weaver Syndrome

    American Journal of Medical Genetics

    Volume 86, Issue 4, 8 October 1999, Pages: 395–397, Bethany M. Freeman, Alexander H. Hoon Jr., Steven N. Breiter and Ada Hamosh

    Version of Record online : 22 SEP 1999, DOI: 10.1002/(SICI)1096-8628(19991008)86:4<395::AID-AJMG16>3.0.CO;2-L

  18. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1637–1654, William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka and Lisa G. Shaffer

    Version of Record online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

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    Genetic Malformations of the Cerebral Cortex and Epilepsy

    Epilepsia

    Volume 46, Issue s1, March 2005, Pages: 32–37, Renzo Guerrini

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.0013-9580.2005.461010.x

  20. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2981–3008, Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph Shieh, John B. Moeschler, Barbara Crandall, Julie L. Lauzon, David H. Viskochil, Brian Harding and John M. Graham Jr.

    Version of Record online : 13 NOV 2007, DOI: 10.1002/ajmg.a.32040