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There are 18460 results for: content related to: Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

  1. You have free access to this content
    Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 3, March 2011, Pages: 486–507, Angela E. Lin, Mark E. Alexander, Steven D. Colan, Bronwyn Kerr, Katherine A. Rauen, Jacqueline Noonan, Jeanne Baffa, Elizabeth Hopkins, Katia Sol-Church, Giuseppe Limongelli, Maria Christina Digilio, Bruno Marino, A. Micheil Innes, Yoko Aoki, Michael Silberbach, Marie-Ange Delrue, Susan M. White, Robert M. Hamilton, William O'Connor, Paul D. Grossfeld, Leslie B. Smoot, Robert F. Padera and Karen W. Gripp

    Article first published online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33857

  2. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1472–1480, Karen W. Gripp, Angela E. Lin, Linda Nicholson, William Allen, Andrea Cramer, Kenneth L. Jones, Wendy Kutz, Dawn Peck, Michael A. Rebolledo, Patricia G. Wheeler, William Wilson, Mohamad M. Al-Rahawan, Deborah L. Stabley and Katia Sol-Church

    Article first published online : 5 JUN 2007, DOI: 10.1002/ajmg.a.31815

  3. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review

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

    Volume 157, Issue 2, 15 May 2011, Pages: 115–122, Marni E. Axelrad, David D. Schwartz, Jennifer M. Katzenstein, Elizabeth Hopkins and Karen W. Gripp

    Article first published online : 14 APR 2011, DOI: 10.1002/ajmg.c.30299

  4. Behavioral Profile in RASopathies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 934–942, Paolo Alfieri, Giorgia Piccini, Cristina Caciolo, Francesca Perrino, Maria Luigia Gambardella, Maria Mallardi, Laura Cesarini, Chiara Leoni, Daniela Leone, Chiara Fossati, Angelo Selicorni, Maria Cristina Digilio, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino and Stefano Vicari

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36374

  5. You have free access to this content
    Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1205–1217, Katherine A. Rauen, Erin Hefner, Kristin Carrillo, Jill Taylor, Laure Messier, Yoko Aoki, Karen W. Gripp, Yoichi Matsubara, Virginia K. Proud, Peter Hammond, Judith E. Allanson, Marie-Ange Delrue, Marni E. Axelrad, Angela E. Lin, Daniel A. Doyle, Bronwyn Kerr, John C. Carey, Frank McCormick, Alcino J. Silva, Mark W. Kieran, Aleksander Hinek, Tan T. Nguyen and Lisa Schoyer

    Article first published online : 15 APR 2008, DOI: 10.1002/ajmg.a.32276

  6. The musculoskeletal phenotype of the RASopathies

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

    Volume 157, Issue 2, 15 May 2011, Pages: 90–103, David A. Stevenson and Feng-Chun Yang

    Article first published online : 14 APR 2011, DOI: 10.1002/ajmg.c.30296

  7. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1161–1168, Karen W. Gripp, Elizabeth Hopkins, Daniel Doyle and William B. Dobyns

    Article first published online : 22 APR 2010, DOI: 10.1002/ajmg.a.33391

  8. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 706–716, Karen W. Gripp, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia and Angela E. Lin

    Article first published online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33884

  9. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 1–7, Karen W. Gripp, Angela E. Lin, Deborah L. Stabley, Linda Nicholson, Charles I. Scott Jr., Daniel Doyle, Yoko Aoki, Yoichi Matsubara, Elaine H. Zackai, Pablo Lapunzina, Antonio Gonzalez-Meneses, Jennifer Holbrook, Cynthia A. Agresta, Iris L. Gonzalez and Katia Sol-Church

    Article first published online : 2 DEC 2005, DOI: 10.1002/ajmg.a.31047

  10. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 62–70, AL Schulz, B Albrecht, C Arici, I Van Der Burgt, A Buske, G Gillessen-Kaesbach, R Heller, D Horn, CA Hübner, GC Korenke, R König, W Kress, G Krüger, P Meinecke, J Mücke, B Plecko, E Rossier, A Schinzel, A Schulze, E Seemanova, H Seidel, S Spranger, B Tuysuz, S Uhrig, D Wieczorek, K Kutsche and M Zenker

    Article first published online : 27 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00931.x

  11. Tumor predisposition in Costello syndrome

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 72–77, Karen W. Gripp

    Article first published online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30065

  12. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 8, 15 April 2007, Pages: 799–807, Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Giovanni Neri, Hélène Cavé, Alain Verloes, Caroline Nava, Maria Ines Kavamura, Nobuhiko Okamoto, Kenji Kurosawa, Raoul C.M. Hennekam, Louise C. Wilson, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Pablo Lapunzina, Hirofumi Ohashi, Yoshio Makita, Ikuko Kondo, Shigeru Tsuchiya, Etsuro Ito, Kiyoko Sameshima, Kumi Kato, Shigeo Kure and Yoichi Matsubara

    Article first published online : 15 MAR 2007, DOI: 10.1002/ajmg.a.31658

  13. Further delineation of cardiac abnormalities in Costello syndrome

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 115–129, Angela E. Lin, Paul D. Grossfeld, Robert M. Hamilton, Leslie Smoot, Karen W. Gripp, Virginia Proud, Rosanna Weksberg, Patricia Wheeler, Jonathan Picker, Mira Irons, Elaine Zackai, Bradley Marino, Charles I. Scott Jr. and Linda Nicholson

    Article first published online : 11 JUN 2002, DOI: 10.1002/ajmg.10558

  14. Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 779–784, Laura P. Smith, John Podraza and Virginia K. Proud

    Article first published online : 13 MAR 2009, DOI: 10.1002/ajmg.a.32778

  15. Costello syndrome: An overview

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

    Volume 117C, Issue 1, 15 February 2003, Pages: 42–48, Raoul C.M. Hennekam

    Article first published online : 9 JAN 2003, DOI: 10.1002/ajmg.c.10019

  16. Living with Costello syndrome: Quality of life issues in older individuals

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 84–90, Elizabeth Hopkins, Angela E. Lin, Katherine E. Krepkovich, Marni E. Axelrad, Katia Sol-Church, Deborah L. Stabley, Jobayer Hossain and Karen W. Gripp

    Article first published online : 23 DEC 2009, DOI: 10.1002/ajmg.a.33147

  17. A premature infant with Costello syndrome due to a rare G13C HRAS mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 487–489, Maria Piccione, Ettore Piro, Maria Grazia Pomponi, Federico Matina, Roberta Pietrobono, Eva Candela, Bruna Gabriele, Giovanni Neri and Giovanni Corsello

    Article first published online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32674

  18. Peripheral muscle weakness in RASopathies

    Muscle & Nerve

    Volume 46, Issue 3, September 2012, Pages: 394–399, David A. Stevenson, Shawn Allen, William E. Tidyman, John C. Carey, David H. Viskochil, Austin Stevens, Heather Hanson, Xiaoming Sheng, Brandi A. Thompson, Megumi J. Okumura, Kent Reinker, Barbara Johnson and Katherine A. Rauen

    Article first published online : 20 AUG 2012, DOI: 10.1002/mus.23324

  19. You have free access to this content
    Elevated catecholamine metabolites in patients with Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 48–51, Karen W. Gripp, Hiroshi Kawame, David H. Viskochil and Linda Nicholson

    Article first published online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30100

  20. You have free access to this content
    Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 683–690, Karen W. Gripp, A. Micheil Innes, Marni E. Axelrad, Tanya L. Gillan, Jillian S. Parboosingh, Christine Davies, Norma J. Leonard, Monique Lapointe, Daniel Doyle, Sarah Catalano, Linda Nicholson, Deborah L. Stabley and Katia Sol-Church

    Article first published online : 4 FEB 2008, DOI: 10.1002/ajmg.a.32227