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There are 5076 results for: content related to: Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair

  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

    Version of Record online : 28 APR 2011, DOI: 10.1002/humu.21492

  2. 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

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35363

  3. 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

    Version of Record online : 19 OCT 2010, DOI: 10.1111/j.1749-6632.2010.05790.x

  4. 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

  5. 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

    Version of Record online : 11 DEC 2008, DOI: 10.1111/j.1601-183X.2008.00469.x

  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

    Version of Record online : 13 APR 2010, DOI: 10.1002/gcc.20773

  7. New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

    Annals of Human Genetics

    Volume 80, Issue 1, January 2016, Pages: 50–62, M. Čizmárová, K. Hlinková, S. Bertok, P. Kotnik, H.C. Duba, R. Bertalan, K. Poločková, Ľ. Košťálová, Z. Pribilincová, A. Hlavatá, L. Kovács and D. Ilenčíková

    Version of Record online : 26 NOV 2015, DOI: 10.1111/ahg.12140

  8. 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

    Version of Record online : 1 DEC 2009, DOI: 10.1002/gcc.20735

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    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

    Version of Record online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35519

  10. 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

    Version of Record online : 17 DEC 2009, DOI: 10.1111/j.1442-200X.2009.03020.x

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    Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1217–1224, Sara Ekvall, Lars Hagenäs, Judith Allanson, Göran Annerén and Marie-Louise Bondeson

    Version of Record online : 5 MAY 2011, DOI: 10.1002/ajmg.a.33987

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    Reactive oxygen species mediate Na+-induced SOS1 mRNA stability in Arabidopsis

    The Plant Journal

    Volume 53, Issue 3, February 2008, Pages: 554–565, Jung-Sung Chung, Jian-Kang Zhu, Ray A. Bressan, Paul M. Hasegawa and Huazhong Shi

    Version of Record online : 8 NOV 2007, DOI: 10.1111/j.1365-313X.2007.03364.x

  13. SOS1 mutations are rare in human malignancies: Implications for Noonan syndrome patients

    Genes, Chromosomes and Cancer

    Volume 47, Issue 3, March 2008, Pages: 253–259, Kenneth D. Swanson, Jordan M. Winter, Marcelo Reis, Mohamed Bentires-Alj, Heidi Greulich, Rupinder Grewal, Ralph H. Hruban, Charles J. Yeo, Yosuf Yassin, Oleg Iartchouk, Kate Montgomery, Susan P. Whitman, Michael A. Caligiuri, Mignon L. Loh, D. Gary Gilliland, A. Thomas Look, Raju Kucherlapati, Scott E. Kern, Matthew Meyerson and Benjamin G. Neel

    Version of Record online : 6 DEC 2007, DOI: 10.1002/gcc.20527

  14. 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

    Version of Record online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33564

  15. Behavioral Profile in RASopathies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 934–942, Paolo Alfieri, Giorgia Piccini, Cristina Caciolo, Francesca Perrino, Maria Luigia Gambardella, Maria Mallardi, Laura Cesarini, Chiara Leoni, Daniela Leone, Chiara Fossati, Angelo Selicorni, Maria Cristina Digilio, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino and Stefano Vicari

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36374

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    The SOS1 transporter of Physcomitrella patens mediates sodium efflux in planta

    New Phytologist

    Volume 188, Issue 3, November 2010, Pages: 750–761, Ana Fraile-Escanciano, Yasuko Kamisugi, Andrew C. Cuming, Alonso Rodríguez-Navarro and Begoña Benito

    Version of Record online : 2 AUG 2010, DOI: 10.1111/j.1469-8137.2010.03405.x

  17. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3106–3111, Patroula Smpokou, Erica Tworog-Dube, Raju S. Kucherlapati and Amy E. Roberts

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35639

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    Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

    Prenatal Diagnosis

    Volume 36, Issue 5, May 2016, Pages: 418–423, Fahad Hakami, Mitchell W. Dillon, Matthew Lebo and Heather Mason-Suares

    Version of Record online : 28 MAR 2016, DOI: 10.1002/pd.4797

  19. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 665–669, Giulio Calcagni, Anwar Baban, Enrica De Luca, Benedetta Leonardi, Giacomo Pongiglione and Maria Cristina Digilio

    Version of Record online : 21 DEC 2015, DOI: 10.1002/ajmg.a.37505

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    The Sos1 and Sos2 Ras-specific exchange factors: differences in placental expression and signaling properties

    The EMBO Journal

    Volume 19, Issue 4, February 15, 2000, Pages: 642–654, Xiaolan Qian, Luis Esteban, William C. Vass, Cheerag Upadhyaya, Alex G. Papageorge, Kate Yienger, Jerrold M. Ward, Douglas R. Lowy and Eugenio Santos

    Version of Record online : 15 FEB 2000, DOI: 10.1093/emboj/19.4.642