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There are 7153 results for: content related to: Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

  1. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2351–2355, Jonathan J. Edwards, Simone Martinelli, Luca Pannone, Ivan Fai-Man Lo, Lisong Shi, Lisa Edelmann, Marco Tartaglia, Ho-Ming Luk and Bruce D. Gelb

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.a.36620

  2. Malignancy in Noonan syndrome and related disorders

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 516–522, P. Smpokou, D.J. Zand, K.N. Rosenbaum and M.L. Summar

    Version of Record online : 4 MAR 2015, DOI: 10.1111/cge.12568

  3. Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 744–751, Andreas Hahn, Jessica Lauriol, Josef Thul, Kachina Behnke-Hall, Tushiha Logeswaran, Anne Schänzer, Nuray Böğürcü, Boyan K. Garvalov, Martin Zenker, Bruce D. Gelb, Susanne von Gerlach, Reinhard Kandolf, Maria I. Kontaridis and Dietmar Schranz

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.36982

  4. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 407–411, Eriko Nishi, Seiji Mizuno, Yuka Nanjo, Tetsuya Niihori, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki and Tomoki Kosho

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36842

  5. Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2685–2690, Christina Lissewski, Sarina G. Kant, Zornitza Stark, Ina Schanze and Martin Zenker

    Version of Record online : 14 MAY 2015, DOI: 10.1002/ajmg.a.37155

  6. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 157, Issue 2, 15 May 2011, Pages: 83–89, Christian P. Kratz, Suthee Rapisuwon, Helen Reed, Henrik Hasle and Philip S. Rosenberg

    Version of Record online : 15 APR 2011, DOI: 10.1002/ajmg.c.30300

  7. 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

  8. Developmental Syndromes of Ras/MAPK Pathway Dysregulation

    Standard Article

    eLS

    Alexsandra C Malaquias and Alexander AL Jorge

    Published Online : 17 MAR 2014, DOI: 10.1002/9780470015902.a0021426

  9. 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

  10. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 1959–1966, David A. Stevenson, Lisa Schill, Lisa Schoyer, Brage S. Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J. Fisher, David Franz, Bruce D. Gelb, Anne Goriely, Karen W. Gripp, Antonio Y. Hardan, Kim M. Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni, Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh and Brigitte C. Widemann

    Version of Record online : 7 MAY 2016, DOI: 10.1002/ajmg.a.37723

  11. Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2786–2794, Federica Tamburrino, Dino Gibertoni, Cesare Rossi, Emanuela Scarano, Annamaria Perri, Francesca Montanari, Maria Pia Fantini, Andrea Pession, Marco Tartaglia and Laura Mazzanti

    Version of Record online : 31 JUL 2015, DOI: 10.1002/ajmg.a.37260

  12. Hypertrophic neuropathy in Noonan syndrome with multiple lentigines

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1570–1572, Claire Maridet, Guilhem Sole, Fanny Morice-Picard and Alain Taieb

    Version of Record online : 7 MAR 2016, DOI: 10.1002/ajmg.a.37601

  13. Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2814–2821, Angela Myers, Jonathan A. Bernstein, Marie-Luise Brennan, Cynthia Curry, Edward D. Esplin, Jamie Fisher, Margaret Homeyer, Melanie A. Manning, Eric A. Muller, Anna-Kaisa Niemi, Laurie H. Seaver, Susan R. Hintz and Louanne Hudgins

    Version of Record online : 22 SEP 2014, DOI: 10.1002/ajmg.a.36737

  14. Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype

    Clinical Genetics

    Accepted manuscript online: 29 APR 2017, Claudia Santoro, Teresa Giugliano, Mariarosa Anna Beatrice Melone, Mario Cirillo, Carla Schettino, Pia Bernardo, Giovanni Cirillo, Silverio Perrotta and Giulio Piluso

    DOI: 10.1111/cge.13047

  15. Craniofacial and dental development in Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1425–1430, Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen and Ophir D. Klein

    Version of Record online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36475

  16. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 579–587, Sara Ekvall, Kerstin Sjörs, Anders Jonzon, Mauno Vihinen, Göran Annerén and Marie-Louise Bondeson

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36313

  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. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1406–1410, Juliette Piard, Alain Verloes, Hélène Cavé, Michel Peuchmaur, Selim Bennaceur and Bruno Leheup

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35329

  19. Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2258–2265, David D. Schwartz, Jennifer M. Katzenstein, Elisabeth Hopkins, Deborah L. Stabley, Katia Sol-Church, Karen W. Gripp and Marni E. Axelrad

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36078

  20. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1077–1082, Caio R.D.C. Quaio, Jozélio F. Carvalho, Clovis A. da Silva, Cleonice Bueno, Amanda S. Brasil, Alexandre C. Pereira, Alexander A.L. Jorge, Alexsandra C. Malaquias, Chong A. Kim and Débora R. Bertola

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35290