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There are 26891 results for: content related to: Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes

  1. 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

  2. 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

  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

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.32992

  4. 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

  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

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

  6. 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

  7. Gain-of-function mutation in PTPN11 in histiocytic sarcomas of Bernese Mountain Dogs

    Veterinary and Comparative Oncology

    T. Thaiwong, S. Sirivisoot, M. Takada, V. Yuzbasiyan-Gurkan and M. Kiupel

    Version of Record online : 20 SEP 2017, DOI: 10.1111/vco.12357

  8. You have free access to this content
    Somatic PTPN11 mutations in childhood acute myeloid leukaemia

    British Journal of Haematology

    Volume 129, Issue 3, May 2005, Pages: 333–339, Marco Tartaglia, Simone Martinelli, Ivano Iavarone, Giovanni Cazzaniga, Monica Spinelli, Emanuela Giarin, Valentina Petrangeli, Claudio Carta, Riccardo Masetti, Maurizio Aricò, Franco Locatelli, Giuseppe Basso, Mariella Sorcini, Andrea Pession and Andrea Biondi

    Version of Record online : 7 APR 2005, DOI: 10.1111/j.1365-2141.2005.05457.x

  9. 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

  10. 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

  11. 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

  12. 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

    Version of Record online : 4 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00839.x

  13. Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 451–459, Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C. Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B. Ferrero, Simone Martinelli and Marco Tartaglia

    Version of Record online : 7 FEB 2017, DOI: 10.1002/humu.23175

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    Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 47, Issue 1, January 2008, Pages: 26–33, Kajsa Paulsson, Andrea Horvat, Bodil Strömbeck, Fredrik Nilsson, Jesper Heldrup, Mikael Behrendtz, Erik Forestier, Anna Andersson, Thoas Fioretos and Bertil Johansson

    Version of Record online : 1 OCT 2007, DOI: 10.1002/gcc.20502

  15. Mutational status of NRAS, KRAS, and PTPN11 genes is associated with genetic/cytogenetic features in children with B-precursor acute lymphoblastic leukemia

    Pediatric Blood & Cancer

    Der-Cherng Liang, Shih-Hsiang Chen, Hsi-Che Liu, Chao-Ping Yang, Ting-Chi Yeh, Tang-Her Jaing, Iou-Jih Hung, Jen-Yin Hou, Tung-Huei Lin, Chun-Hui Lin and Lee-Yung Shih

    Version of Record online : 29 AUG 2017, DOI: 10.1002/pbc.26786

  16. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies

    Genes, Chromosomes and Cancer

    Volume 45, Issue 6, June 2006, Pages: 583–591, Yuyan Chen, Junko Takita, Mitsuteru Hiwatari, Takashi Igarashi, Ryoji Hanada, Akira Kikuchi, Teruaki Hongo, Tomohiko Taki, Mizuho Ogasawara, Akira Shimada and Yasuhide Hayashi

    Version of Record online : 3 MAR 2006, DOI: 10.1002/gcc.20322

  17. Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2529–2533, Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, Satoshi Fuseya, Miki Horigome, Keiko Wakui, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki and Tomoki Kosho

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34194

  18. 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

  19. Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation

    Pediatric Blood & Cancer

    Volume 48, Issue 1, January 2007, Pages: 101–104, Christophe F. Chantrain, Priscilla Jijon, Thomas De Raedt, Christiane Vermylen, Hélène A. Poirel, Eric Legius and Bénédicte Brichard

    Version of Record online : 2 AUG 2005, DOI: 10.1002/pbc.20527

  20. 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