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There are 96467 results for: content related to: Rasopathy diagnosis advances

  1. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2085–2097, Karen W. Gripp, Katia Sol-Church, Patroula Smpokou, Gail E. Graham, David A. Stevenson, Heather Hanson, David H. Viskochil, Laura C. Baker, Bridget Russo, Nick Gardner, Deborah L. Stabley, Verena Kolbe and Georg Rosenberger

    Version of Record online : 25 APR 2015, DOI: 10.1002/ajmg.a.37128

  2. Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1902–1907, Livia Garavelli, Viviana Cordeddu, Stefania Errico, Patrizia Bertolini, Maria Elisabeth Street, Simonetta Rosato, Marzia Pollazzon, Anita Wischmeijer, Ivan Ivanovski, Paola Daniele, Ermanno Bacchini, Alfonsa Anna Lombardi, Giancarlo Izzi, Giacomo Biasucci, Carmine Del Rossi, Domenico Corradi, Giovanni Cazzaniga, Carlo Dominici, Cesare Rossi, Alessandro De Luca, Sergio Bernasconi, Riccardo Riccardi, Eric Legius and Marco Tartaglia

    Version of Record online : 5 APR 2015, DOI: 10.1002/ajmg.a.37082

  3. 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

    Version of Record online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33857

  4. A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1414–1421, Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy and Meral Gunay-Aygun

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35363

  5. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2657–2663, Yonit A. Addissie, Udhaya Kotecha, Rachel A. Hart, Ariel F. Martinez, Paul Kruszka and Maximilian Muenke

    Version of Record online : 6 AUG 2015, DOI: 10.1002/ajmg.a.37259

  6. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

    American Journal of Medical Genetics Part A

    Volume 173, Issue 3, March 2017, Pages: 824–828, Débora Bertola, Guilherme Yamamoto, Michelle Buscarilli, Alexander Jorge, Maria Rita Passos-Bueno and Chong Kim

    Version of Record online : 17 FEB 2017, DOI: 10.1002/ajmg.a.38070

  7. Malignancy in Noonan syndrome and related disorders

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 516–522, P. Smpokou, D.J. Zand, K.N. Rosenbaum and M.L. Summar

    Version of Record online : 4 MAR 2015, DOI: 10.1111/cge.12568

  8. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2237–2247, Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E. Timms and William B. Dobyns

    Version of Record online : 5 JUN 2016, DOI: 10.1002/ajmg.a.37781

  9. Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2786–2794, Federica Tamburrino, Dino Gibertoni, Cesare Rossi, Emanuela Scarano, Annamaria Perri, Francesca Montanari, Maria Pia Fantini, Andrea Pession, Marco Tartaglia and Laura Mazzanti

    Version of Record online : 31 JUL 2015, DOI: 10.1002/ajmg.a.37260

  10. 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

    Version of Record online : 22 APR 2010, DOI: 10.1002/ajmg.a.33391

  11. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2106–2118, Karen W. Gripp, Eugenia Bifeld, Deborah L. Stabley, Elizabeth Hopkins, Stefanie Meien, Kathy Vinette, Katia Sol-Church and Georg Rosenberger

    Version of Record online : 20 JUL 2012, DOI: 10.1002/ajmg.a.35449

  12. Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2814–2821, Angela Myers, Jonathan A. Bernstein, Marie-Luise Brennan, Cynthia Curry, Edward D. Esplin, Jamie Fisher, Margaret Homeyer, Melanie A. Manning, Eric A. Muller, Anna-Kaisa Niemi, Laurie H. Seaver, Susan R. Hintz and Louanne Hudgins

    Version of Record online : 22 SEP 2014, DOI: 10.1002/ajmg.a.36737

  13. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1309–1318, Débora Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol-Church and Karen W. Gripp

    Version of Record online : 3 APR 2017, DOI: 10.1002/ajmg.a.38178

  14. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2420–2430, Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley and Katia Sol-Church

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36098

  15. Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 565–567, Regina M. Zambrano, Michael Marble, Stuart A. Chalew, Christian Lilje, Alfonso Vargas and Yves Lacassie

    Version of Record online : 21 NOV 2016, DOI: 10.1002/ajmg.a.38056

  16. Costello Syndrome

    Management of Genetic Syndromes

    Bronwyn Kerr, Karen W. Gripp, Angela E. Lin, Pages: 211–225, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch16

  17. Multiple café au lait spots in familial patients with MAP2K2 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 392–396, Toshiki Takenouchi, Atsushi Shimizu, Chiharu Torii, Rika Kosaki, Takao Takahashi, Hideyuki Saya and Kenjiro Kosaki

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36288

  18. Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2685–2690, Christina Lissewski, Sarina G. Kant, Zornitza Stark, Ina Schanze and Martin Zenker

    Version of Record online : 14 MAY 2015, DOI: 10.1002/ajmg.a.37155

  19. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 1959–1966, David A. Stevenson, Lisa Schill, Lisa Schoyer, Brage S. Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J. Fisher, David Franz, Bruce D. Gelb, Anne Goriely, Karen W. Gripp, Antonio Y. Hardan, Kim M. Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni, Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh and Brigitte C. Widemann

    Version of Record online : 7 MAY 2016, DOI: 10.1002/ajmg.a.37723

  20. You have free access to this content
    Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 4–24, Katherine A. Rauen, Lisa Schoyer, Frank McCormick, Angela E. Lin, Judith E. Allanson, David A. Stevenson, Karen W. Gripp, Giovanni Neri, John C. Carey, Eric Legius, Marco Tartaglia, Suzanne Schubbert, Amy E. Roberts, Bruce D. Gelb, Kevin Shannon, David H. Gutmann, Martin McMahon, Carmen Guerra, James A. Fagin, Benjamin Yu, Yoko Aoki, Benjamin G. Neel, Allan Balmain, Richard R. Drake, Garry P. Nolan, Martin Zenker, Gideon Bollag, Judith Sebolt-Leopold, Jackson B. Gibbs, Alcino J. Silva, E. Elizabeth Patton, David H. Viskochil, Mark W. Kieran, Bruce R. Korf, Randi J. Hagerman, Roger J. Packer and Teri Melese

    Version of Record online : 11 DEC 2009, DOI: 10.1002/ajmg.a.33183