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There are 7148 results for: content related to: PTPN11 gene mutation associated with abnormal gonadal determination

  1. 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

  2. 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

  3. Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2216–2219, Sa Tang, Hiroshi Hoshida, Mitsuhiro Kamisago, Hisato Yagi, Kazuo Momma and Rumiko Matsuoka

    Version of Record online : 1 SEP 2009, DOI: 10.1002/ajmg.a.32735

  4. Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 620–628, Giuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, Paolo Calabrò, Maria Cristina Digilio, Valeria Maddaloni, Giulia Gagliardi, Giovanni Di Salvo, Maria Iacomino, Bruno Marino, Bruno Dallapiccola and Raffaele Calabrò

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32206

  5. 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

  6. 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

  7. 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

  8. 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

  9. You have free access to this content
    A Novel PTPN11 mutation in LEOPARD syndrome

    Human Mutation

    Volume 21, Issue 6, June 2003, Page: 654, E. Conti, T. Dottorini, A. Sarkozy, G. E. Tiller, G. Esposito, A. Pizzuti and B. Dallapiccola

    Version of Record online : 23 SEP 2003, DOI: 10.1002/humu.9149

  10. Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

    Clinical Genetics

    Volume 75, Issue 2, February 2009, Pages: 185–189, KA Schrader, TN Nelson, A De Luca, DG Huntsman and BC McGillivray

    Version of Record online : 3 DEC 2008, DOI: 10.1111/j.1399-0004.2008.01100.x

  11. LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2612–2615, Karin Writzl, Jan Hoovers, Erik A. Sistermans and Raoul C.M. Hennekam

    Version of Record online : 12 OCT 2007, DOI: 10.1002/ajmg.a.31991

  12. 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

  13. 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

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    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

  15. 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

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    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

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    The Transition from Stem Cell to Progenitor Spermatogonia and Male Fertility Requires the SHP2 Protein Tyrosine Phosphatase


    Volume 32, Issue 3, March 2014, Pages: 741–753, Pawan Puri, Bart T. Phillips, Hitomi Suzuki, Kyle E. Orwig, Aleksandar Rajkovic, Philip E. Lapinski, Philip D. King, Gen-Sheng Feng and William H. Walker

    Version of Record online : 19 FEB 2014, DOI: 10.1002/stem.1572

  18. 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

  19. 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

  20. 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