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There are 7420 results for: content related to: Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

  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. 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

  3. 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

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

  4. 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

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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

  6. 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

  7. 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

  8. 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

  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. 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

  11. 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

  12. 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

  13. Molecular Genetics of Costello Syndrome

    Standard Article

    eLS

    Emma MM Burkitt Wright and Bronwyn Kerr

    Published Online : 15 SEP 2014, DOI: 10.1002/9780470015902.a0021471

  14. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 352–362, Georg Rosenberger, Stefanie Meien and Kerstin Kutsche

    Version of Record online : 25 NOV 2008, DOI: 10.1002/humu.20855

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    Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

    Prenatal Diagnosis

    Volume 29, Issue 7, July 2009, Pages: 682–690, Angela E. Lin, Barbara O'Brien, Laurie A. Demmer, Kristina K. Almeda, Cynthia L. Blanco, Patrick F. Glasow, Charles I. Berul, Robert Hamilton, A. Micheil Innes, Julie L. Lauzon, Katia Sol-Church and Karen W. Gripp

    Version of Record online : 20 APR 2009, DOI: 10.1002/pd.2276

  16. Somatic mosaicism for an HRAS mutation causes Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 20, 15 October 2006, Pages: 2163–2169, Karen W. Gripp, Deborah L. Stabley, Linda Nicholson, Jodi D. Hoffman and Katia Sol-Church

    Version of Record online : 12 SEP 2006, DOI: 10.1002/ajmg.a.31456

  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

    Version of Record online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32674

  18. Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum

    Human Mutation

    Volume 38, Issue 7, July 2017, Pages: 798–804, Francesca Pantaleoni, Dorit Lev, Ion C. Cirstea, Marialetizia Motta, Francesca Romana Lepri, Lisabianca Bottero, Serena Cecchetti, Ilan Linger, Stefano Paolacci, Elisabetta Flex, Antonio Novelli, Alessandra Carè, Mohammad R. Ahmadian, Emilia Stellacci and Marco Tartaglia

    Version of Record online : 3 MAY 2017, DOI: 10.1002/humu.23224

  19. 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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    Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 559–564, Karen W. Gripp, Katherine M. Robbins, Brandon S. Sheffield, Anna F. Lee, Millan S. Patel, Stephen Yip, Daniel Doyle, Deborah Stabley and Katia Sol-Church

    Version of Record online : 17 NOV 2015, DOI: 10.1002/ajmg.a.37471