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There are 8087 results for: content related to: Orthopedic manifestations and implications for individuals with Costello syndrome

  1. Respiratory system involvement in Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 7, July 2016, Pages: 1849–1857, Natalia Gomez-Ospina, Christin Kuo, Amitha Lakshmi Ananth, Angela Myers, Marie-Luise Brennan, David A. Stevenson, Jonathan A. Bernstein and Louanne Hudgins

    Version of Record online : 22 APR 2016, DOI: 10.1002/ajmg.a.37655

  2. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  3. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  4. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2938–2946, Lucia Pedace, Luigi Laino, Nicoletta Preziosi, Maria Stella Valentini, Salvatore Scommegna, Anna Maria Rapone, Nino Guarino, Brunetto Boscherini, Carmelilia De Bernardo, Giacinto Marrocco, Silvia Majore and Paola Grammatico

    Version of Record online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36729

  5. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  6. Review of familial cerebral cavernous malformations and report of seven additional families

    American Journal of Medical Genetics Part A

    Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek and Maurice A. M. van Steensel

    Version of Record online : 28 OCT 2016, DOI: 10.1002/ajmg.a.38028

  7. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

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    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  10. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  11. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

  12. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  13. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  14. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

  15. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 141–155, Anne Wheeler, Melissa Raspa, Carla Bann, Ellen Bishop, David Hessl, Pat Sacco and Donald B. Bailey Jr.

    Version of Record online : 25 NOV 2013, DOI: 10.1002/ajmg.a.36232

  16. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1252–1261, Laïla El Khattabi, Sylvie Jaillard, Joris Andrieux, Laurent Pasquier, Laurence Perrin, Yline Capri, Abdelmadjid Benmansour, Annick Toutain, Pascale Marcorelles, Catherine Vincent-Delorme, Hubert Journel, Catherine Henry, Claire De Barace, Louise Devisme, Christèle Dubourg, Florence Demurger, Josette Lucas, Marc-Antoine Belaud-Rotureau, Jeanne Amiel, Valérie Malan, Marie-Christine De Blois, Loïc De Pontual, Aziza Lebbar, Nathalie Le DÛ, Dominique P. Germain, Jean-Marc Pinard, Eva Pipiras, Anne-Claude Tabet, Azzedine Aboura and Alain Verloes

    Version of Record online : 2 APR 2015, DOI: 10.1002/ajmg.a.36932

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    Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2860–2872, Fiorella Gurrieri and David B. Everman

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36239

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    Mosaicism for trisomy 21: A review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 26–39, Paulie Papavassiliou, Chariyawan Charalsawadi, Kelly Rafferty and Colleen Jackson-Cook

    Version of Record online : 20 NOV 2014, DOI: 10.1002/ajmg.a.36861

  19. Central 22q11.2 deletions

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2707–2723, Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren-Bemelmans, Hermine E. Veenstra-Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema-Raddatz, Trijnie Dijkhuizen and Conny M. van Ravenswaaij-Arts

    Version of Record online : 14 AUG 2014, DOI: 10.1002/ajmg.a.36711

  20. Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2276–2286, Morten Herlin, Allan T. Højland and Michael B. Petersen

    Version of Record online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36652