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There are 25210 results for: content related to: Costello syndrome community mourns New Zealand pediatrician

  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. 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

  3. Orthopedic manifestations and implications for individuals with Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1940–1949, Stacey Detweiler, Mihir M. Thacker, Elizabeth Hopkins, Laura Conway and Karen W. Gripp

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.36047

  4. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

    British Journal of Dermatology

    Volume 166, Issue 3, March 2012, Pages: 601–607, D.H. Siegel, J.A. Mann, A.L. Krol and K.A. Rauen

    Version of Record online : 22 FEB 2012, DOI: 10.1111/j.1365-2133.2011.10744.x

  5. 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

  6. 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

    Version of Record online : 20 AUG 2012, DOI: 10.1002/mus.23324

  7. Clinical and molecular analysis of RASopathies in a group of Turkish patients

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 181–186, PÖ Şimşek-Kiper, Y Alanay, B Gülhan, C Lissewski, D Türkyılmaz, D Alehan, M Çetin, GE Utine, M Zenker and K Boduroğlu

    Version of Record online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01875.x

  8. 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

  9. 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

    Version of Record online : 14 APR 2011, DOI: 10.1002/ajmg.c.30299

  10. 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

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    Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2570–2577, Judith E. Allanson

    Version of Record online : 7 MAY 2016, DOI: 10.1002/ajmg.a.37736

  12. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

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

    Volume 157, Issue 2, 15 May 2011, Pages: 136–146, Katherine A. Rauen, Anuradha Banerjee, W. Robert Bishop, Jennifer O. Lauchle, Frank McCormick, Martin McMahon, Teri Melese, Pamela N. Munster, Sorena Nadaf, Roger J. Packer, Judith Sebolt-Leopold and David H. Viskochil

    Version of Record online : 14 APR 2011, DOI: 10.1002/ajmg.c.30294

  13. You have full text access to this OnlineOpen article
    Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations

    Molecular Systems Biology

    Volume 10, Issue 5, May 2014, Christina Kiel and Luis Serrano

    Version of Record online : 6 MAY 2014, DOI: 10.1002/msb.20145092

  14. Craniofacial and dental development in Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1425–1430, Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen and Ophir D. Klein

    Version of Record online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36475

  15. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1083–1094, Yu Abe, Yoko Aoki, Shinichi Kuriyama, Hiroshi Kawame, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Seiji Mizuno, Tsutomu Ogata, Shigeo Kure, Tetsuya Niihori, Yoichi Matsubara and Costello and CFC syndrome study group in Japan

    Version of Record online : 11 APR 2012, DOI: 10.1002/ajmg.a.35292

  16. 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

    Version of Record online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33884

  17. 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

  18. “Trying so hard to be like the big boys”: Elvis Costello Explores Male Aggression and Militarism in Armed Forces

    The Journal of Popular Culture

    Volume 46, Issue 6, December 2013, Pages: 1198–1216, John McCombe

    Version of Record online : 28 JAN 2014, DOI: 10.1111/jpcu.12084

  19. 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

  20. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1095–1101, Karen W. Gripp, Elizabeth Hopkins, Alvaro Serrano, Norma J. Leonard, Deborah L. Stabley and Katia Sol-Church

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35294