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There are 1616 results for: content related to: Central nervous system malformations and deformations in FGFR2 -related craniosynostosis

  1. Is megalencephaly specific to autism?

    Journal of Intellectual Disability Research

    Volume 43, Issue 4, August 1999, Pages: 279–282, M. Ghaziuddin, J. Zaccagnini, L. Tsai and S. Elardo

    Article first published online : 24 DEC 2001, DOI: 10.1046/j.1365-2788.1999.00211.x

  2. Children with Large Heads: à Practical Approach to Diagnosis in 557 Children, with Special Reference to 109 Children with Megalencephaly

    Developmental Medicine & Child Neurology

    Volume 23, Issue 5, October 1981, Pages: 494–504, John Lorber and Betty L. Priestley

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1981.tb02023.x

  3. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1488–1497, Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein and Grazia M.S. Mancini

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33408

  4. You have free access to this content
    Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 2, February 2012, Pages: 269–291, Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham Jr and William B. Dobyns

    Article first published online : 6 JAN 2012, DOI: 10.1002/ajmg.a.34402

  5. 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

  6. Megalencephaly, mega corpus callosum, and complete lack of motor development: A previously undescribed syndrome

    American Journal of Medical Genetics

    Volume 79, Issue 3, 23 September 1998, Pages: 161–167, G. Göhlich-Ratmann, M. Baethmann, P. Lorenz, J. Gärtner, H.H. Goebel, V. Engelbrecht, H.-J. Christen, H.-G. Lenard and T. Voit

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980923)79:3<161::AID-AJMG2>3.0.CO;2-Q

  7. Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation

    Prenatal Diagnosis

    Volume 25, Issue 6, June 2005, Pages: 489–491, Cecilia Parazzini, Andrea Righini, Faustina Lalatta, Elena Bianchini and Fabio Triulzi

    Article first published online : 20 JUN 2005, DOI: 10.1002/pd.1178

  8. Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 2, June 2014, Pages: 156–172, Ghayda M. Mirzaa and Annapurna Poduri

    Article first published online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31401

  9. Increased Surface Area, but not Cortical Thickness, in a Subset of Young Boys With Autism Spectrum Disorder

    Autism Research

    Haruhisa Ohta, Christine Wu Nordahl, Ana-Maria Iosif, Aaron Lee, Sally Rogers and David G. Amaral

    Article first published online : 16 JUL 2015, DOI: 10.1002/aur.1520

  10. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome

    Prenatal Diagnosis

    Volume 33, Issue 10, October 2013, Pages: 1010–1012, Daniel T. Swarr, Nahla Khalek, James Treat, Margaret A. Horton, Ghayda M. Mirzaa, Jean-Baptiste Riviere, William B. Dobyns and Elaine H. Zackai

    Article first published online : 23 JUL 2013, DOI: 10.1002/pd.4178

  11. 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

  12. INTRACRANIAL SPACES IN CHILDHOOD MACROCEPHALY: COMPARISON OF LENGTH MEASUREMENTS AND VOLUME CALCULATIONS

    Developmental Medicine & Child Neurology

    Volume 30, Issue 4, August 1988, Pages: 509–519, R. H. J. M. Gooskens, C. C. A. M. Gielen, P. W. Hanlox, J. A. Faber and J. Willemse

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1988.tb04778.x

  13. Cerebrospinal Fluid Dynamics in Megalencephaly

    Developmental Medicine & Child Neurology

    Volume 17, Issue s35, December 1975, Pages: 51–57, MICHAEL J. BRESNAN and ANTONIO V. LORENZO

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1975.tb03579.x

  14. 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

    Article first published online : 20 AUG 2010, DOI: 10.1002/ajmg.a.33577

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    Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

    Annals of Neurology

    Volume 77, Issue 1, January 2015, Pages: 114–131, Mohit Dubey, Marianna Bugiani, Margreet C. Ridder, Nienke L. Postma, Eelke Brouwers, Emiel Polder, J. Gerbren Jacobs, Johannes C. Baayen, Jan Klooster, Maarten Kamermans, Romy Aardse, Christiaan P. J. de Kock, Marien P. Dekker, Jan R. T. van Weering, Vivi M. Heine, Truus E. M. Abbink, Gert C. Scheper, Ilja Boor, Johannes C. Lodder, Huibert D. Mansvelder and Marjo S. van der Knaap

    Article first published online : 4 DEC 2014, DOI: 10.1002/ana.24307

  16. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 2, 15 January 2008, Pages: 204–207, Aditi I. Dagli, Heather J. Stalker and Charles A. Williams

    Article first published online : 12 DEC 2007, DOI: 10.1002/ajmg.a.32079

  17. You have free access to this content
    Genetic disorders associated with macrocephaly

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2023–2037, Charles A. Williams, Aditi Dagli and Agatino Battaglia

    Article first published online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32434

  18. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1659–1667, Gareth Baynam, Angela Overkov, Mark Davis, Kym Mina, Lyn Schofield, Richard Allcock, Nigel Laing, Matthew Cook, Hugh Dawkins and Jack Goldblatt

    Article first published online : 6 APR 2015, DOI: 10.1002/ajmg.a.37070

  19. Re-evaluation of the Approach to an Enlarging Head in Infancy

    Developmental Medicine & Child Neurology

    Volume 20, Issue 6, December 1978, Pages: 738–745, Patricia H. Ellison

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1978.tb15305.x

  20. Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 2, May 2013, Pages: 122–130, GHAYDA M. MIRZAA, JEAN-BAPTISTE RIVIÈRE and WILLIAM B. DOBYNS

    Article first published online : 16 APR 2013, DOI: 10.1002/ajmg.c.31361