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There are 16783 results for: content related to: Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

  1. 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

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32215

  2. 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

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22026

  3. 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

  4. 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

  5. PTPN11 mutations play a minor role in isolated congenital heart disease

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 146–151, Constance G. Weismann, A. Hager, H. Kaemmerer, C. L. Maslen, Cynthia D. Morris, D. Schranz, J. Kreuder and B.D. Gelb

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30789

  6. Cooperation of MLL/AF10(OM-LZ) with PTPN11 activating mutation induced monocytic leukemia with a shorter latency in a mouse bone marrow transplantation model

    International Journal of Cancer

    Volume 140, Issue 5, 1 March 2017, Pages: 1159–1172, Jen-Fen Fu, Sung-Tzu Liang, Ying-Jung Huang, Kung-Hao Liang, Tzung-Hai Yen, Der-Cherng Liang and Lee-Yung Shih

    Version of Record online : 25 NOV 2016, DOI: 10.1002/ijc.30515

  7. Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 3, 1 February 2008, Pages: 350–353, Ellen A. Croonen, Ineke van der Burgt, Livia Kapusta and Jos M. Th. Draaisma

    Version of Record online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32140

  8. A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 63–66, Rie Yoshida, Masafumi Miyata, Toshiro Nagai, Toshio Yamazaki and Tsutomu Ogata

    Version of Record online : 23 MAR 2004, DOI: 10.1002/ajmg.a.30029

  9. You have free access to this content
    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

  10. 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

    Version of Record online : 7 FEB 2012, DOI: 10.1002/ajmg.a.34439

  11. 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

    Version of Record online : 10 MAR 2008, DOI: 10.1111/j.1365-2265.2008.03234.x

  12. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 4, 1 November 2004, Pages: 378–383, Débora Romeo Bertola, Alexandre C. Pereira, Paulo S.L. de Oliveira, Chong A. Kim and José Eduardo Krieger

    Version of Record online : 21 SEP 2004, DOI: 10.1002/ajmg.a.30270

  13. Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 242–245, Debora R. Bertola, Alexandre C. Pereira, Fábio Passetti, Paulo S.L. de Oliveira, Ludwine Messiaen, Bruce D. Gelb, Chong A. Kim and José Eduardo Krieger

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.a.30813

  14. 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

    Version of Record online : 7 MAR 2006, DOI: 10.1002/ajmg.a.31156

  15. 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

    Version of Record online : 27 JUL 2012, DOI: 10.1002/ajmg.a.35493

  16. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1263–1267, Christian Thiel, Martin Wilken, Martin Zenker, Heinrich Sticht, Raimund Fahsold, Gabriele-Charlotte Gusek-Schneider and Anita Rauch

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32837

  17. 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

  18. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

    Clinical Genetics

    Volume 75, Issue 2, February 2009, Pages: 190–194, KA Lee, B Williams, K Roza, H Ferguson, K David, K Eddleman, J Stone, L Edelmann, G Richard, BD Gelb and R Kornreich

    Version of Record online : 28 AUG 2008, DOI: 10.1111/j.1399-0004.2008.01085.x

  19. 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

  20. Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1249–1252, Kristin Becker, Helen Hughes, Karol Howard, Maggie Armstrong, Devender Roberts, Edgar J. Lazda, John P. Short, Adam Shaw, Michael A. Patton and Marco Tartaglia

    Version of Record online : 11 MAY 2007, DOI: 10.1002/ajmg.a.31738