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There are 11046 results for: content related to: In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

  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. 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

  3. 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

  4. CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies

    Journal of Cellular Physiology

    Volume 231, Issue 3, March 2016, Pages: 613–622, Grazia Fazio, Carles Gaston-Massuet, Laura Rachele Bettini, Federica Graziola, Valeria Scagliotti, Anna Cereda, Luca Ferrari, Mara Mazzola, Gianni Cazzaniga, Antonio Giordano, Franco Cotelli, Gianfranco Bellipanni, Andrea Biondi, Angelo Selicorni, Anna Pistocchi and Valentina Massa

    Version of Record online : 23 NOV 2015, DOI: 10.1002/jcp.25106

  5. 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

  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. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 924–929, Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnación Rubio, Inés Bueno, Antonio Baldellou, Mª Teresa Calvo, Nuria Casals, José Luis Olivares, Ana Losada, Fausto G. Hegardt, Ian D. Krantz, Paulino Gómez-Puertas and Feliciano J. Ramos

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33348

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    Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2909–2919, Cristina Gervasini, Silvia Russo, Anna Cereda, Ilaria Parenti, Maura Masciadri, Jacopo Azzollini, Daniela Melis, Teresa Aravena, Bérénice Doray, Alessandra Ferrarini, Livia Garavelli, Angelo Selicorni and Lidia Larizza

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36252

  9. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1641–1653, Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz and Matthew A. Deardorff

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33441

  10. 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

    Version of Record online : 10 SEP 2012, DOI: 10.1002/ajmg.a.35582

  11. 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

  12. 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

    Version of Record online : 16 SEP 2013, DOI: 10.1002/humu.22430

  13. You have free access to this content
    Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1630–1640, Antonio Musio and Ian D. Krantz

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33439

  14. 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

  15. 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

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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

  17. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 446–451, C. Baquero-Montoya, M.C. Gil-Rodríguez, M.E. Teresa-Rodrigo, M. Hernández-Marcos, G. Bueno-Lozano, I. Bueno-Martínez, S. Remeseiro, R. Fernández-Hernández, M. Bassecourt-Serra, M. Rodríguez de Alba, E. Queralt, A. Losada, B. Puisac, F.J. Ramos and J. Pié

    Version of Record online : 17 JUN 2013, DOI: 10.1111/cge.12194

  18. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

    Clinical Genetics

    S. Jansen, T. Kleefstra, M.H. Willemsen, P. de Vries, R. Pfundt, J.Y. Hehir-Kwa, C. Gilissen, J.A. Veltman, B.B.A. de Vries and L.E.L.M. Vissers

    Version of Record online : 14 FEB 2016, DOI: 10.1111/cge.12729

  19. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity

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

    Maninder Kaur, Devanshi Mehta, Sarah E. Noon, Matthew A. Deardorff, Zhe Zhang and Ian D. Krantz

    Version of Record online : 29 APR 2016, DOI: 10.1002/ajmg.c.31495

  20. Germline mosaicism in Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1481–1485, Thomas P. Slavin, Noam Lazebnik, Dinah M. Clark, Jaime Vengoechea, Leslie Cohen, Maninder Kaur, Laura Konczal, Carol A. Crowe, Jane E. Corteville, Malgorzata J. Nowaczyk, Janice L. Byrne, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35381