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There are 61905 results for: content related to: Carer-Reported Contemporary Health Problems in People With Severe and Profound Intellectual Disability and Genetic Syndromes

  1. Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up

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

    Volume 169, Issue 2, June 2015, Pages: 188–197, Lisa Cochran, Joanna Moss, Lisa Nelson and Chris Oliver

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31438

  2. You have free access to this content
    Cornelia de Lange syndrome: Extending the physical and psychological phenotype

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1127–1135, Chris Oliver, Maria Francesca Bedeschi, Natalie Blagowidow, Cheri S. Carrico, Anna Cereda, David R. FitzPatrick, Cristina Gervasini, Gemma M. Griffith, Antonie D. Kline, P. Marchisio, Joanna Moss, Feliciano J. Ramos, Angelo Selicorni, Penny Tunnicliffe, Jolanta Wierzba and Raoul C.M. Hennekam

    Version of Record online : 13 APR 2010, DOI: 10.1002/ajmg.a.33363

  3. Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology

    Journal of Intellectual Disability Research

    Volume 53, Issue 7, July 2009, Pages: 575–589, C. Oliver, J. Sloneem, S. Hall and K. Arron

    Version of Record online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01179.x

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    Cornelia de Lange Syndrome 4th Biennial Scientific and Educational Symposia abstracts

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 11, November 2010, Pages: 2683–2694, Antonie D. Kline

    Version of Record online : 14 OCT 2010, DOI: 10.1002/ajmg.a.33676

  5. You have free access to this content
    Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Version of Record online : 28 OCT 2014, DOI: 10.1111/cge.12499

  6. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome

    Journal of Child Psychology and Psychiatry

    Volume 53, Issue 8, August 2012, Pages: 883–891, Jo Moss, Patricia Howlin, Iliana Magiati and Chris Oliver

    Version of Record online : 10 APR 2012, DOI: 10.1111/j.1469-7610.2012.02540.x

  7. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1172–1185, Antonie D. Kline, Ian D. Krantz, Matthew A. Deardorff, Katsuhiko Shirahige, Dale Dorsett, Jennifer L. Gerton, Meng Wu, Devanshi Mehta, Jason A. Mills, Cheri S. Carrico, Sarah Noon, Pamela S. Herrera, Julia A. Horsfield, Chiara Bettale, Jeremy Morgan, Sylvia A. Huisman, Jo Moss, Joseph McCleery, Marco Grados, Blake D. Hansen, Siddharth Srivastava, Emily Taylor-Snell, Lynne M. Kerr, Olivia Katz, Anne L. Calof, Antonio Musio, Alena Egense and Richard E. Haaland

    Version of Record online : 12 FEB 2017, DOI: 10.1002/ajmg.a.38161

  8. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1179–1192, Antonie D. Kline, Anne L. Calof, Arthur D. Lander, Jennifer L. Gerton, Ian D. Krantz, Dale Dorsett, Matthew A. Deardorff, Natalie Blagowidow, Kyoko Yokomori, Katsuhiko Shirahige, Rosaysela Santos, Julie Woodman, Paul C. Megee, Julia T. O'Connor, Alena Egense, Sarah Noon, Maurice Belote, Marjorie T. Goodban, Blake D. Hansen, Jenni Glad Timmons, Antonio Musio, Stacey L. Ishman, Yvon Bryan, Yaning Wu, Laura R. Bettini, Devanshi Mehta, Musinu Zakari, Jason A. Mills, Siddharth Srivastava and Richard E. Haaland

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37056

  9. Cornelia de Lange syndrome, cohesin, and beyond

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 303–314, J Liu and ID Krantz

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01271.x

  10. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome

    Journal of Intellectual Disability Research

    Volume 53, Issue 7, July 2009, Pages: 604–619, J. Wulffaert, I. van Berckelaer-Onnes, P. Kroonenberg, E. Scholte, Z. Bhuiyan and R. Hennekam

    Version of Record online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01185.x

  11. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 557–563, L. Basel-Vanagaite, L. Wolf, M. Orin, L. Larizza, C. Gervasini, I.D. Krantz and M.A. Deardoff

    Version of Record online : 25 JAN 2016, DOI: 10.1111/cge.12716

  12. Natural history of aging in Cornelia de Lange syndrome

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

    Volume 145C, Issue 3, 15 August 2007, Pages: 248–260, Antonie D. Kline, Marco Grados, Paul Sponseller, Howard P. Levy, Natalie Blagowidow, Christianne Schoedel, Joni Rampolla, Douglas K. Clemens, Ian Krantz, Amy Kimball, Carmen Pichard and David Tuchman

    Version of Record online : 19 JUL 2007, DOI: 10.1002/ajmg.c.30137

  13. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1848–1856, Dinah M. Clark, Ilana Sherer, Matthew A. Deardorff, Janice L.B. Byrne, Kathleen M. Loomes, Malgorzata J.M. Nowaczyk, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35410

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    Clinical, molecular, and animal model studies in Cornelia de Lange syndrome and the cohesinopathies: Abstracts from the 3rd Scientific Cornelia de Lange Syndrome Symposium, 2008

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1615–1622, Antonie D. Kline

    Version of Record online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32911

  15. Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1384–1393, Antonie D. Kline, Anne L. Calof, Cheri A. Schaaf, Ian D. Krantz, Soma Jyonouchi, Kyoko Yokomori, Maria Gauze, Cheri S. Carrico, Julie Woodman, Jennifer L. Gerton, Hugo Vega, Alex V. Levin, Katsuhiko Shirahige, Michele Champion, Marjorie T. Goodban, Julia T. O'Connor, Mary Pipan, Julia Horsfield, Matthew A. Deardorff, Stacey L. Ishman and Dale Dorsett

    Version of Record online : 6 FEB 2014, DOI: 10.1002/ajmg.a.36417

  16. Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 267–276, Karen L. Russell, Jeffrey E. Ming, Ketan Patel, Lori Jukofsky, Mark Magnusson and Ian D. Krantz

    Version of Record online : 29 OCT 2001, DOI: 10.1002/ajmg.10066

  17. Autism traits in children and adolescents with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1400–1410, Siddharth Srivastava, Colleen Landy-Schmitt, Bennett Clark, Antonie D. Kline, Matt Specht and Marco A. Grados

    Version of Record online : 9 APR 2014, DOI: 10.1002/ajmg.a.36573

  18. Descriptive epidemiology of Cornelia de Lange syndrome in Europe

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 51–59, Ingeborg Barisic, Visnja Tokic, Maria Loane, Fabrizio Bianchi, Eliza Calzolari, Ester Garne, Diana Wellesley and Helen Dolk

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32016

  19. Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events

    Journal of Intellectual Disability Research

    Volume 53, Issue 7, July 2009, Pages: 590–603, J. Sloneem, K. Arron, S. S. Hall and C. Oliver

    Version of Record online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01183.x

  20. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1287–1296, Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin and Angelo Selicorni

    Version of Record online : 16 MAY 2007, DOI: 10.1002/ajmg.a.31757