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There are 5705 results for: content related to: Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

  1. You have free access to this content
    Genotype differences in cognitive functioning in Noonan syndrome

    Genes, Brain and Behavior

    Volume 8, Issue 3, April 2009, Pages: 275–282, E. I. Pierpont, , M. E. Pierpont, , N. J. Mendelsohn, , A. E. Roberts, ,, E. Tworog-Dube and M. S. Seidenberg

    Article first published online : 11 DEC 2008, DOI: 10.1111/j.1601-183X.2008.00469.x

  2. 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

    Article first published online : 4 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00839.x

  3. Malignancy in Noonan syndrome and related disorders

    Clinical Genetics

    P. Smpokou, D.J. Zand, K.N. Rosenbaum and M.L. Summar

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

  4. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 652–658, Silke Pauli, Doris Steinemann, Kai Dittmann, Jürgen Wienands, Moneef Shoukier, Marita Möschner, Peter Burfeind, Georgi Manukjan, Gudrun Göhring and Gabriele Escherich

    Article first published online : 7 FEB 2012, DOI: 10.1002/ajmg.a.34439

  5. Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 2, 15 April 2005, Pages: 165–170, Marjolijn Jongmans, Erik A. Sistermans, Alwin Rikken, Willy M. Nillesen, Rienk Tamminga, Michael Patton, Esther M. Maier, Marco Tartaglia, Kees Noordam and Ineke van der Burgt

    Article first published online : 18 FEB 2005, DOI: 10.1002/ajmg.a.30598

  6. 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

  7. LEOPARD syndrome: Clinical diagnosis in the first year of life

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 740–746, M. Cristina Digilio, Anna Sarkozy, Andrea de Zorzi, Giuseppe Pacileo, Giuseppe Limongelli, Rita Mingarelli, Raffaele Calabrò, Bruno Marino and Bruno Dallapiccola

    Article first published online : 7 MAR 2006, DOI: 10.1002/ajmg.a.31156

  8. Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 239–242, Elena Lopez-Rangel, Peter N. Malleson, David S. Lirenman, Benjamin Roa, Joanna Wiszniewska and M.E. Suzanne Lewis

    Article first published online : 10 NOV 2005, DOI: 10.1002/ajmg.a.31017

  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. Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome

    Pediatric Blood & Cancer

    Volume 62, Issue 6, June 2015, Pages: 1084–1086, Sushmita Nair, John A. Fort, Anthony T. Yachnis and Charles A. Williams

    Article first published online : 13 JAN 2015, DOI: 10.1002/pbc.25382

  11. You have free access to this content
    Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2700–2706, Alexsandra C. Malaquias, Amanda S. Brasil, Alexandre C. Pereira, Ivo J.P. Arnhold, Berenice B. Mendonca, Debora R. Bertola and Alexander A.L. Jorge

    Article first published online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35519

  12. You have free access to this content
    Cognitive functioning of adults with Noonan syndrome: a case–control study

    Genes, Brain and Behavior

    Volume 11, Issue 7, October 2012, Pages: 785–793, E. Wingbermühle, R. L. Roelofs, I. van der Burgt, P. M. Souren, W. M. A. Verhoeven, R. P. C. Kessels and J. I. M. Egger

    Article first published online : 10 AUG 2012, DOI: 10.1111/j.1601-183X.2012.00821.x

  13. 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

  14. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

    Clinical Endocrinology

    Volume 69, Issue 3, September 2008, Pages: 426–431, Lize V. Ferreira, Silvia C. A. L. Souza, Luciana R. Montenegro, Alexsandra C. Malaquias, Ivo J. P. Arnhold, Berenice B. Mendonca and Alexander A. L. Jorge

    Article first published online : 10 MAR 2008, DOI: 10.1111/j.1365-2265.2008.03234.x

  15. 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

  16. 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

  17. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 11, November 2010, Pages: 2768–2774, Murat Derbent, Yekta Oncel, Kürşad Tokel, Birgül Varan, Ayşegül Haberal, A. Canan Yazıcı, Eric Legius and Namık Ozbek

    Article first published online : 15 OCT 2010, DOI: 10.1002/ajmg.a.33713

  18. 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

  19. 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

  20. 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