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There are 11179 results for: content related to: SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

  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

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    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

  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. 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. 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

  6. 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

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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

  8. 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

    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

  9. 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

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    Cohesin: Functions beyond sister chromatid cohesion

    FEBS Letters

    Volume 587, Issue 15, August 02, 2013, Pages: 2299–2312, Gunjan D. Mehta, Ravinder Kumar, Sanjeeva Srivastava and Santanu Kumar Ghosh

    Version of Record online : 4 JUL 2013, DOI: 10.1016/j.febslet.2013.06.035

  11. 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

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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

  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

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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

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

  15. 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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    Cohesin controls planar cell polarity by regulating the level of the seven-pass transmembrane cadherin Flamingo

    Genes to Cells

    Volume 17, Issue 6, June 2012, Pages: 509–524, Kousuke Mouri, Shin-ya Horiuchi and Tadashi Uemura

    Version of Record online : 7 MAY 2012, DOI: 10.1111/j.1365-2443.2012.01604.x

  17. 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

    Volume 172, Issue 2, June 2016, Pages: 163–170, 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

  18. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Epilepsia

    Joseph D. Symonds, Shelagh Joss, Kay A. Metcalfe, Suresh Somarathi, Jamie Cruden, Anita M. Devlin, Alan Donaldson, Nataliya DiDonato, David Fitzpatrick, Frank J. Kaiser, Anne K. Lampe, Melissa M. Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter Turnpenny, William P. Whitehouse, The DDD Study and Sameer M. Zuberi

    Version of Record online : 6 FEB 2017, DOI: 10.1111/epi.13669

  19. 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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    Etiology and pathogenesis of the cohesinopathies

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 5, September/October 2015, Pages: 489–504, Musinu Zakari, Kobe Yuen and Jennifer L. Gerton

    Version of Record online : 7 APR 2015, DOI: 10.1002/wdev.190