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There are 2747 results for: content related to: SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

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  1. 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

  2. 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

    Article first published online : 23 DEC 2008, DOI: 10.1111/j.1749-6632.2008.03450.x

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    Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: 5–10, Linda Mannini, Jinglan Liu, Ian D. Krantz and Antonio Musio

    Article first published online : 23 SEP 2009, DOI: 10.1002/humu.21129

  4. The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

    Human Mutation

    Volume 31, Issue 6, June 2010, Pages: 623–630, Linda Mannini, Stefania Menga and Antonio Musio

    Article first published online : 6 APR 2010, DOI: 10.1002/humu.21252

  5. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1216–1222, Jorge Oliveira, Cristina Dias, Egbert Redeker, Eurico Costa, João Silva, Margarida Reis Lima, Johan T. den Dunnen and Rosário Santos

    Article first published online : 28 OCT 2010, DOI: 10.1002/humu.21352

  6. 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

  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

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33348

  8. 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

  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

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

  10. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 193–198, Nicole Hoppman-Chaney, Jin Sung Jang, Jin Jen, Dusica Babovic-Vuksanovic and Jennelle C. Hodge

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34360

  11. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1535–1542, Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A. Deardorff, Eden V. Haverfield, Maninder Kaur, Jennifer R. Li, Dinah Clark, Antonie D. Kline, Darrel J. Waggoner, Soma Das, Laird G. Jackson and Ian D. Krantz

    Article first published online : 15 JUL 2009, DOI: 10.1002/humu.21095

  12. 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

    Article first published online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33441

  13. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

    Clinical Genetics

    Volume 74, Issue 6, December 2008, Pages: 531–538, C Gervasini, R Pfundt, P Castronovo, S Russo, G Roversi, M Masciadri, D Milani, G Zampino, A Selicorni, EFPM Schoenmakers and L Larizza

    Article first published online : 16 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01086.x

  14. 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

  15. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3007–3024, Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette Gillis, Antonie D. Kline, Linda Ernst, Kathleen Loomes, Ian D. Krantz and Laird G. Jackson

    Article first published online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34329

  16. 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

  17. Facial expression of affect in children with Cornelia de Lange syndrome

    Journal of Intellectual Disability Research

    Volume 52, Issue 3, March 2008, Pages: 207–215, L. Collis, J. Moss, J. Jutley, K. Cornish and C. Oliver

    Article first published online : 14 NOV 2007, DOI: 10.1111/j.1365-2788.2007.01004.x

  18. 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

  19. Cornelia deLange Syndrome

    Standard Article

    Management of Genetic Syndromes

    David R. Fitzpatrick and Antonie D. Kline

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs013

  20. 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

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