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There are 126096 results for: content related to: Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

  1. You have full text access to this OnlineOpen article
    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 760–772, Francesca Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria L. Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria F. Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Cirillo Silengo, Giovanni B. Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, Maria C. Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb and Marco Tartaglia

    Article first published online : 28 APR 2011, DOI: 10.1002/humu.21492

  2. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

    Genes, Chromosomes and Cancer

    Volume 49, Issue 3, March 2010, Pages: 242–252, Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets, Inge Francois, Yves Sznajer, Margarita Craen, George Leventopoulos, Léon Mutesa, Willy Vandecasseye, Guy Massa, Hulya Kayserili, Raf Sciot, Jean-Pierre Fryns and Eric Legius

    Article first published online : 1 DEC 2009, DOI: 10.1002/gcc.20735

  3. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2122–2128, John M. Graham Jr, Nancy Kramer, Bassem A. Bejjani, Christian T. Thiel, Claudio Carta, Giovanni Neri, Marco Tartaglia and Martin Zenker

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.32992

  4. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway

    Pediatrics International

    Volume 52, Issue 4, August 2010, Pages: 557–562, Munkhtuya Tumurkhuu, Makiko Saitoh, Atsushi Sato, Kan Takahashi, Masakazu Mimaki, Junko Takita, Kazuhide Takeshita, Takehiro Hama, Akira Oka and Masashi Mizuguchi

    Article first published online : 17 DEC 2009, DOI: 10.1111/j.1442-200X.2009.03020.x

  5. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1042–1048, Oleg A. Shchelochkov, Ankita Patel, George M. Weissenberger, A. Craig Chinault, Joanna Wiszniewska, Priscilla H. Fernandes, Christine Eng, Mary K. Kukolich and V. Reid Sutton

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32215

  6. 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

    Article first published online : 4 MAR 2015, DOI: 10.1111/cge.12568

  7. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 99–121, Marco Tartaglia and Bruce D. Gelb

    Article first published online : 19 OCT 2010, DOI: 10.1111/j.1749-6632.2010.05790.x

  8. Case report: Noonan syndrome with multiple giant cell lesions and review of the literature

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2283–2289, Julia Karbach, Wiltrud Coerdt, Wilfried Wagner and Oliver Bartsch

    Article first published online : 27 JUL 2012, DOI: 10.1002/ajmg.a.35493

  9. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 591–600, Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog-Dube, Katherine A. Rauen and Mark S. Seidenberg

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33268

  10. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2176–2184, Mauro Longoni, Silvia Moncini, Mariangela Cisternino, Ilaria M. Morella, Serena Ferraiuolo, Silvia Russo, Savina Mannarino, Valeria Brazzelli, Paola Coi, Renata Zippel, Marco Venturin and Paola Riva

    Article first published online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33564

  11. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 140–146, Laura Cesarini, Paolo Alfieri, Francesca Pantaleoni, Isabella Vasta, Marta Cerutti, Valentina Petrangeli, Paolo Mariotti, Chiara Leoni, Daniela Ricci, Stefano Vicari, Angelo Selicorni, Marco Tartaglia, Eugenio Mercuri and Giuseppe Zampino

    Article first published online : 9 JAN 2009, DOI: 10.1002/ajmg.a.32488

  12. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2723–2730, Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera and Carlos A. Bacino

    Article first published online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33112

  13. 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

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35363

  14. Noonan Syndrome

    Standard Article

    eLS

    Marco Tartaglia and Bruce D Gelb

    Published Online : 15 SEP 2011, DOI: 10.1002/9780470015902.a0006226.pub2

  15. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 695–702, Anna Sarkozy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, Maria C. Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Lepri, Valentina Petrangeli, Maria L. Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni B. Ferrero, Margherita Cirillo Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola and Marco Tartaglia

    Article first published online : 10 FEB 2009, DOI: 10.1002/humu.20955

  16. Noonan syndrome

    Journal of Paediatrics and Child Health

    Volume 50, Issue 10, October 2014, Pages: E14–E20, Anne M Turner

    Article first published online : 19 JUL 2011, DOI: 10.1111/j.1440-1754.2010.01970.x

  17. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

    Genes, Chromosomes and Cancer

    Volume 49, Issue 7, July 2010, Pages: 635–641, Marjolijn C. J. Jongmans, Peter M. Hoogerbrugge, Linda Hilkens, Uta Flucke, Ineke van der Burgt, Kees Noordam, Martina Ruiterkamp-Versteeg, Helger G. Yntema, Willy M. Nillesen, Marjolijn J. L. Ligtenberg, Ad Geurts van Kessel, Roland P. Kuiper and Nicoline Hoogerbrugge

    Article first published online : 13 APR 2010, DOI: 10.1002/gcc.20773

  18. You have full text access to this OnlineOpen article
    Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 703–709, Giovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, Elisabetta Flex, Claudio Isella, Daniela Cantarella, Davide Corà, Nicoletta Chiesa, Nicoletta Crescenzio, Fabio Timeus, Giuseppe Merla, Laura Mazzanti, Giuseppe Zampino, Cesare Rossi, Margherita Silengo, Marco Tartaglia and Enzo Medico

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22026

  19. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

    Human Mutation

    Volume 31, Issue 3, March 2010, Pages: 284–294, Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata, Satoru Sakazume, Tatsuya Ando, Noriko Nakagawa, Pablo Lapunzina, Antonio G. Meneses, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Kenji Kurosawa, Seiji Mizuno, Hirofumi Ohashi, Albert David, Nicole Philip, Afag Guliyeva, Yoko Narumi, Shigeo Kure, Shigeru Tsuchiya and Yoichi Matsubara

    Article first published online : 5 JAN 2010, DOI: 10.1002/humu.21187

  20. 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

    Article first published online : 14 MAY 2015, DOI: 10.1002/ajmg.a.37155