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There are 11273 results for: content related to: Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

  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. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1433–1438, Anita Hiippala, Catalina Vasilescu, Jonna Tallila, Tero-Pekka Alastalo, Anders Paetau, Tiina Tyni, Anu Suomalainen, Liliya Euro and Tiina Ojala

    Version of Record online : 17 FEB 2016, DOI: 10.1002/ajmg.a.37596

  3. 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

  4. 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

    Version of Record online : 4 FEB 2008, DOI: 10.1002/ajmg.a.32227

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    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

    Version of Record online : 15 APR 2008, DOI: 10.1002/ajmg.a.32276

  6. Frequent activating HRAS mutations in trichilemmoma

    British Journal of Dermatology

    Volume 171, Issue 5, November 2014, Pages: 1073–1077, J.-H. Tsai, W.-C. Huang, J.-Y. Jhuang, Y.-M. Jeng, M.-L. Cheng, H.-Y. Chiu, K.-T. Kuo and J.-Y. Liau

    Version of Record online : 30 SEP 2014, DOI: 10.1111/bjd.13143

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    HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 8–16, Anne L. Estep, William E. Tidyman, Michael A. Teitell, Philip D. Cotter and Katherine A. Rauen

    Version of Record online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31078

  8. Differential dynamics of RAS isoforms in GDP- and GTP-bound states

    Proteins: Structure, Function, and Bioinformatics

    Volume 83, Issue 6, June 2015, Pages: 1091–1106, Abhijeet Kapoor and Alex Travesset

    Version of Record online : 22 APR 2015, DOI: 10.1002/prot.24805

  9. 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

    Version of Record online : 27 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00931.x

  10. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

    Human Mutation

    Volume 32, Issue 1, January 2011, Pages: 33–43, Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, Ion C. Cirstea, Christian Peter Kratz, Martin Zenker, Alfred Wittinghofer and Mohammad Reza Ahmadian

    Version of Record online : 9 DEC 2010, DOI: 10.1002/humu.21377

  11. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 315–321, Katia Sol-Church, Deborah L. Stabley, Laurie A. Demmer, Abigail Agbulos, Angela E. Lin, Leslie Smoot, Linda Nicholson and Karen W. Gripp

    Version of Record online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32639

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    The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

    Human Mutation

    Volume 29, Issue 8, August 2008, Pages: 992–1006, Yoko Aoki, Tetsuya Niihori, Yoko Narumi, Shigeo Kure and Yoichi Matsubara

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20748

  13. 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

    Version of Record online : 5 JUN 2007, DOI: 10.1002/ajmg.a.31815

  14. HRAS and the Costello syndrome

    Clinical Genetics

    Volume 71, Issue 2, February 2007, Pages: 101–108, KA Rauen

    Version of Record online : 23 JAN 2007, DOI: 10.1111/j.1399-0004.2007.00743.x

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    HRAS mutation prevalence and associated expression patterns in pheochromocytoma

    Genes, Chromosomes and Cancer

    Volume 55, Issue 5, May 2016, Pages: 452–459, Adam Stenman, Jenny Welander, Ida Gustavsson, Laurent Brunaud, Martin Bäckdahl, Peter Söderkvist, Oliver Gimm, C. Christofer Juhlin and Catharina Larsson

    Version of Record online : 23 FEB 2016, DOI: 10.1002/gcc.22347

  16. Low prevalence of RAS-RAF-activating mutations in Spitz melanocytic nevi compared with other melanocytic lesions

    Journal of Cutaneous Pathology

    Volume 34, Issue 6, June 2007, Pages: 448–455, James O. Indsto, Swapna Kumar, Lixiang Wang, Kerry A. Crotty, Susan M. Arbuckle and Graham J. Mann

    Version of Record online : 31 OCT 2006, DOI: 10.1111/j.1600-0560.2006.00646.x

  17. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome

    Clinical Genetics

    Volume 72, Issue 2, August 2007, Pages: 150–155, S-T Lee, C-S Ki and HJ Lee

    Version of Record online : 4 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00839.x

  18. 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

    Version of Record online : 2 DEC 2005, DOI: 10.1002/ajmg.a.31047

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    Genetics of melanocytic nevi

    Pigment Cell & Melanoma Research

    Volume 28, Issue 6, November 2015, Pages: 661–672, Mi Ryung Roh, Philip Eliades, Sameer Gupta and Hensin Tsao

    Version of Record online : 17 OCT 2015, DOI: 10.1111/pcmr.12412

  20. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2666–2672, Marni E. Axelrad, David D. Schwartz, Julie E. Fehlis, Elizabeth Hopkins, Deborah L. Stabley, Katia Sol-Church and Karen W. Gripp

    Version of Record online : 16 NOV 2009, DOI: 10.1002/ajmg.a.33126