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There are 4454 results for: content related to: A new report of Cornelia de Lange syndrome associated with split hand and feet

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    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

    Article first published online : 13 APR 2010, DOI: 10.1002/ajmg.a.33363

  2. 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

    Article first published online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01185.x

  3. 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

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  4. 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

    Article first published online : 17 MAR 2015, DOI: 10.1002/humu.22761

  5. 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

    Article first published online : 16 MAY 2007, DOI: 10.1002/ajmg.a.31757

  6. 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

    Article first published online : 19 JUL 2007, DOI: 10.1002/ajmg.c.30137

  7. 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

    Article first published online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01179.x

  8. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

    Clinical Genetics

    Volume 72, Issue 2, August 2007, Pages: 98–108, A Selicorni, S Russo, C Gervasini, P Castronovo, D Milani, F Cavalleri, A Bentivegna, M Masciadri, A Domi, MT Divizia, C Sforzini, E Tarantino, L Memo, G Scarano and L Larizza

    Article first published online : 5 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00832.x

  9. Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2499–2505, Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz and Ian D. Krantz

    Article first published online : 10 SEP 2012, DOI: 10.1002/ajmg.a.35582

  10. 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

    Article first published online : 10 APR 2012, DOI: 10.1111/j.1469-7610.2012.02540.x

  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

    Article first published online : 21 APR 2015, DOI: 10.1002/ajmg.a.37056

  12. 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

    Article first published online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32016

  13. Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1589–1596, Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz and Antonio Musio

    Article first published online : 16 SEP 2013, DOI: 10.1002/humu.22430

  14. Cornelia de Lange syndrome, cohesin, and beyond

    Clinical Genetics

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

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01271.x

  15. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1191–1197, Shin Hayashi, Masae Ono, Yoshio Makita, Issei Imoto, Shuki Mizutani and Johji Inazawa

    Article first published online : 11 MAY 2007, DOI: 10.1002/ajmg.a.31737

  16. Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2532–2537, Giovanna Olioso, Alice Passarini, Francesca Atzeri, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Francesca Menni and Angelo Selicorni

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33075

  17. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

    Clinical Genetics

    I. Parenti, C. Gervasini, J. Pozojevic, L. Graul-Neumann, J. Azzollini, D. Braunholz, E. Watrin, K.S. Wendt, A. Cereda, D. Cittaro, G. Gillessen-Kaesbach, D. Lazarevic, M. Mariani, S. Russo, R. Werner, P. Krawitz, L. Larizza, A. Selicorni and F.J. Kaiser

    Article first published online : 25 FEB 2015, DOI: 10.1111/cge.12564

  18. 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

    Article first published online : 29 OCT 2001, DOI: 10.1002/ajmg.10066

  19. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

    Clinical Genetics

    Volume 78, Issue 6, December 2010, Pages: 560–564, P Castronovo, A Delahaye-Duriez, C Gervasini, J Azzollini, F Minier, S Russo, M Masciadri, A Selicorni, A Verloes and L Larizza

    Article first published online : 2 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01408.x

  20. 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

    Article first published online : 11 JUN 2009, DOI: 10.1111/j.1365-2788.2009.01183.x