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There are 6020 results for: content related to: A new report of Cornelia de Lange syndrome associated with split hand and feet

  1. 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

  2. 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

  3. You have free access to this content
    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

  4. 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

  5. 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

  6. 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

  7. 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

  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. 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

  10. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  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. Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 20, 15 October 2006, Pages: 2170–2179, Deborah A.R. Hinkson, Eshetu Atenafu, Shelley J. Kennedy, Sunita Vohra, Deepak Garg and Alex V. Levin

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31404

  20. 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