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There are 4342 results for: content related to: Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 454–462, María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B. Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S. Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R. Li, Xuanzhu Liu, Milena Mariani, Jonathan D. Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine A. Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C.M. Hennekam, Frank J. Kaiser, David R. FitzPatrick and Juan Pié

    Version of Record online : 17 MAR 2015, DOI: 10.1002/humu.22761

  7. Cornelia de Lange Syndrome

    Management of Genetic Syndromes

    David R. Fitzpatrick, Antonie D. Kline, Pages: 195–209, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch15

  8. 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

  9. 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

  10. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

    Prenatal Diagnosis

    Volume 34, Issue 2, February 2014, Pages: 163–167, M. A. Dempsey, A. E. Knight Johnson, B. S. Swope, J. S. Moldenhauer, H. Sroka, K. Chong, D. Chitayat, L. Briere, H. Lyon, N. Palmer, S. Gopalani, J. R. Siebert, S. Lévesque, J. LeBlanc, D. Menzies, E. Haverfield and S. Das

    Version of Record online : 9 DEC 2013, DOI: 10.1002/pd.4279

  11. 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

  12. 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

  13. You have free access to this content
    Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 276–282, Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W. Innis, Nancy B. Spinner, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 1 AUG 2005, DOI: 10.1002/ajmg.a.30857

  14. 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

  15. 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

  16. 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

  17. On the Molecular Etiology of Cornelia de Lange Syndrome

    Annals of the New York Academy of Sciences

    Volume 1151, Issue 1, January 2009, Pages: 22–37, Dale Dorsett and Ian D. Krantz

    Version of Record online : 23 DEC 2008, DOI: 10.1111/j.1749-6632.2008.03450.x

  18. 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

  19. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 120–129, Ian D. Krantz, Emma Tonkin, Melanie Smith, Marcella Devoto, Armand Bottani, Claire Simpson, Mary Hofreiter, Vinod Abraham, Lori Jukofsky, Brian P. Conti, Tom Strachan and Laird Jackson

    Version of Record online : 29 MAY 2001, DOI: 10.1002/1096-8628(20010615)101:2<120::AID-AJMG1319>3.0.CO;2-G

  20. Health and sleep problems in Cornelia de Lange Syndrome: a case control study

    Journal of Intellectual Disability Research

    Volume 52, Issue 5, May 2008, Pages: 458–468, S. S. Hall, K. Arron, J. Sloneem and C. Oliver

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1365-2788.2008.01047.x