Search Results

There are 7443 results for: content related to: Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype

VIEW

  1. 1 - 20
  2. 21 - 40
  3. 41 - 60
  4. 61 - 80
  5. Next >
  1. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 475–481, A.L. Mosca, P. Callier, L. Faivre, N. Marle, N. Mejean, C. Thauvin-Robinet, A. Masurel-Paulet, N. Madinier, C. Durand, G. Couillaud, S. Ragot, F. Huet, J.R. Teyssier and F. Mugneret

    Article first published online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32665

  2. 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

    Article first published online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

  3. You have free access to this content
    Recognizable phenotypes associated with intracranial calcification

    Developmental Medicine & Child Neurology

    Volume 55, Issue 1, January 2013, Pages: 46–57, JOHN H LIVINGSTON, STAVROS STIVAROS, MARJO S VAN DER KNAAP and YANICK J CROW

    Article first published online : 1 NOV 2012, DOI: 10.1111/j.1469-8749.2012.04437.x

  4. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 868–876, Karen W. Gripp, Elizabeth Hopkins, Chana Vinkler, Dorit Lev, Gustavo Malinger, Tally Lerman-Sagie and William B. Dobyns

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32732

  5. Prenatal diagnosis of MPPH syndrome

    Prenatal Diagnosis

    Volume 33, Issue 3, March 2013, Pages: 292–295, Bart De Keersmaecker, Hilde Van Esch, Dominique Van Schoubroeck, Filip Claus, Philippe Moerman and Luc De Catte

    Article first published online : 24 JAN 2013, DOI: 10.1002/pd.4039

  6. Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 930–937, Akhil Muralidhar Kulkarni, Shankar Baskar, Muralidhar Laxmanrao Kulkarni, Abhishek Jayateerth Kulkarni, Amit Vasanth Mahuli, Suhasini Vittalrao and Preethi Muralidar Kulkarni

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33358

  7. 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.

    Article first published online : 13 NOV 2007, DOI: 10.1002/ajmg.a.32040

  8. Interstitial deletion of 13q associated with polymicrogyria

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 910–916, Jillene M. Kogan, John C. Egelhoff and Howard M. Saal

    Article first published online : 6 MAR 2008, DOI: 10.1002/ajmg.a.32188

  9. Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2929–2936, Ghada M.H. Abdel-Salam, Maha S. Zaki, Sahar N. Saleem and Khaled R. Gaber

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32549

  10. Neuroimaging aspects of Aicardi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2871–2878, Bobbi Hopkins, V. Reid Sutton, Richard Alan Lewis, Ignatia Van den Veyver and Gary Clark

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32537

  11. Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 313–317, László Sztriha, Renzo Guerrini, Brian Harding, Fiona Stewart, Nora Chelloug and Johan G. Johansen

    Article first published online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30014

  12. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2891–2897, Shoji Saito, Rie Kawamura, Tomoki Kosho, Takashi Shimizu, Koki Aoyama, Kenichi Koike, Takahito Wada, Naomichi Matsumoto, Mitsuhiro Kato, Keiko Wakui and Yoshimitsu Fukushima

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32556

  13. A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1151–1157, Neide F. Santos, Rodrigo Secolin, Iara L. Brandão-Almeida, Marilza S. Silva, Fábio R. Torres, Simone S. Tsuneda, Catarina A. Guimarães, Simone R.V. Hage, Fernando Cendes, Marilisa M. Guerreiro and Iscia Lopes-Cendes

    Article first published online : 2 APR 2008, DOI: 10.1002/ajmg.a.32270

  14. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 129–137, Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns and M. Elizabeth Ross

    Article first published online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32630

  15. 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

    Article first published online : 4 SEP 2001, DOI: 10.1002/ajmg.1569

  16. You have full text access to this OnlineOpen article
    Bilateral Posterior Parietal Polymicrogyria: A Mild Form of Congenital Bilateral Perisylvian Syndrome?

    Epilepsia

    Volume 42, Issue 7, July 2001, Pages: 845–849, Maria Augusta Montenegro, Marilisa M. Guerreiro, Iscia Lopes-Cendes and Fernando Cendes

    Article first published online : 20 DEC 2001, DOI: 10.1046/j.1528-1157.2001.042007845.x

  17. Prenatal ultrasound detection of bilateral focal polymicrogyria

    Prenatal Diagnosis

    Volume 24, Issue 10, October 2004, Pages: 808–811, Linei Augusta Brolini Delle Urban, Andrea Righini, Mariangela Rustico, Fabio Triulzi and Umberto Nicolini

    Article first published online : 25 OCT 2004, DOI: 10.1002/pd.987

  18. Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes

    Annals of Neurology

    Volume 58, Issue 5, November 2005, Pages: 680–687, Xianhua Piao, Bernard S. Chang, Adria Bodell, Katelyn Woods, Bruria BenZeev, Meral Topcu, Renzo Guerrini, Hadassa Goldberg-Stern, Laszlo Sztriha, William B. Dobyns, A. James Barkovich and Christopher A. Walsh

    Article first published online : 20 OCT 2005, DOI: 10.1002/ana.20616

  19. Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 35–42, Maria Clark and Brian G.R. Neville

    Article first published online : 9 NOV 2007, DOI: 10.1002/ajmg.a.32015

  20. A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 1–5, Luigi Titomanlio, Clarisse Baumann, Gheorghe Bonyhay, Yolène Huten, Jean-François Oury, Edith Vuillard, Catherine Garel, Patricia Terdjman, Alain Verloes and Anne-Lise Delezoide

    Article first published online : 11 AUG 2005, DOI: 10.1002/ajmg.a.30914

VIEW

  1. 1 - 20
  2. 21 - 40
  3. 41 - 60
  4. 61 - 80
  5. Next >