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There are 61313 results for: content related to: Nomenclature in macrocephaly–capillary malformation Syndrome

  1. 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

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32434

  2. 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

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32732

  3. You have free access to this content
    Can syndromic macrocephaly be diagnosed in utero?

    Ultrasound in Obstetrics & Gynecology

    Volume 37, Issue 1, January 2011, Pages: 72–81, G. Malinger, D. Lev, L. Ben-Sira, C. Hoffmann, M. Herrera, F. Viñals, H. Vinkler, S. Ginath, Y. Biran-Gol, D. Kidron and T. Lerman-Sagie

    Version of Record online : 22 DEC 2010, DOI: 10.1002/uog.8799

  4. 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

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2788.1999.00211.x

  5. 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

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33408

  6. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1161–1168, Karen W. Gripp, Elizabeth Hopkins, Daniel Doyle and William B. Dobyns

    Version of Record online : 22 APR 2010, DOI: 10.1002/ajmg.a.33391

  7. 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

    Version of Record online : 6 JAN 2012, DOI: 10.1002/ajmg.a.34402

  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

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31401

  9. 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

  10. You have free access to this content
    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

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1981.tb02023.x

  11. 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

    Version of Record online : 23 JUL 2013, DOI: 10.1002/pd.4178

  12. 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

    Version of Record online : 24 JAN 2013, DOI: 10.1002/pd.4039

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    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

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1988.tb04778.x

  14. 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

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

  15. You have free access to this content
    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

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1975.tb03579.x

  16. 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

    Version of Record online : 4 DEC 2014, DOI: 10.1002/ana.24307

  17. 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

    Version of Record online : 12 DEC 2007, DOI: 10.1002/ajmg.a.32079

  18. You have full text access to this OnlineOpen article
    Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

    Clinical Case Reports

    Volume 3, Issue 2, February 2015, Pages: 114–117, Gholamreza Shariati, Mohammad Hamid, Alihossein Saberi, Behnaz Andashti and Hamid Galehdari

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ccr3.168

  19. 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

    Version of Record online : 6 APR 2015, DOI: 10.1002/ajmg.a.37070

  20. Multifactorial inheritance of non-syndromic macrocephaly

    Clinical Genetics

    Volume 50, Issue 2, August 1996, Pages: 57–62, L. Arbour, G. V. Watters, J. G. Hall and F. C. Fraser

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1996.tb02349.x