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There are 2938 results for: content related to: Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis

  1. You have free access to this content
    Clinicopathologic Evaluation of Cardiofaciocutaneous Syndrome: Overcoming the Challenges of Diagnosing a Rare Genodermatosis

    Pediatric Dermatology

    Volume 32, Issue 1, January/February 2015, Pages: e23–e28, Zachary T. Bryan, Tricia A. Missall, Stacy Stieren, Elaine Siegfried and Nicole M. Burkemper

    Article first published online : 16 DEC 2014, DOI: 10.1111/pde.12494

  2. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 807–814, Katherine A. Rauen, William E. Tidyman, Anne L. Estep, Srirangan Sampath, Henry M. Peltier, Sherri J. Bale and Yves Lacassie

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33342

  3. 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

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36475

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

    American Journal of Medical Genetics Part A

    Christina Lissewski, Sarina G. Kant, Zornitza Stark, Ina Schanze and Martin Zenker

    Article first published online : 14 MAY 2015, DOI: 10.1002/ajmg.a.37155

  5. Peripheral muscle weakness in RASopathies

    Muscle & Nerve

    Volume 46, Issue 3, September 2012, Pages: 394–399, David A. Stevenson, Shawn Allen, William E. Tidyman, John C. Carey, David H. Viskochil, Austin Stevens, Heather Hanson, Xiaoming Sheng, Brandi A. Thompson, Megumi J. Okumura, Kent Reinker, Barbara Johnson and Katherine A. Rauen

    Article first published online : 20 AUG 2012, DOI: 10.1002/mus.23324

  6. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 138–146, M.J.M. Nowaczyk, B.A. Thompson, S. Zeesman, U. Moog, P.A. Sanchez-Lara, P.L. Magoulas, R.E. Falk, J.E. Hoover-Fong, D.A.S. Batista, S.M. Amudhavalli, S.M. White, G.E. Graham and K.A. Rauen

    Article first published online : 2 APR 2013, DOI: 10.1111/cge.12116

  7. 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

    Article first published online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01875.x

  8. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

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

    Volume 157, Issue 2, 15 May 2011, Pages: 136–146, Katherine A. Rauen, Anuradha Banerjee, W. Robert Bishop, Jennifer O. Lauchle, Frank McCormick, Martin McMahon, Teri Melese, Pamela N. Munster, Sorena Nadaf, Roger J. Packer, Judith Sebolt-Leopold and David H. Viskochil

    Article first published online : 14 APR 2011, DOI: 10.1002/ajmg.c.30294

  9. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

    American Journal of Medical Genetics Part A

    Yonit A. Addissie, Udhaya Kotecha, Rachel A. Hart, Ariel F. Martinez, Paul Kruszka and Maximilian Muenke

    Article first published online : 6 AUG 2015, DOI: 10.1002/ajmg.a.37259

  10. Malignancy in Noonan syndrome and related disorders

    Clinical Genetics

    P. Smpokou, D.J. Zand, K.N. Rosenbaum and M.L. Summar

    Article first published online : 4 MAR 2015, DOI: 10.1111/cge.12568

  11. You have free access to this content
    Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 4–24, Katherine A. Rauen, Lisa Schoyer, Frank McCormick, Angela E. Lin, Judith E. Allanson, David A. Stevenson, Karen W. Gripp, Giovanni Neri, John C. Carey, Eric Legius, Marco Tartaglia, Suzanne Schubbert, Amy E. Roberts, Bruce D. Gelb, Kevin Shannon, David H. Gutmann, Martin McMahon, Carmen Guerra, James A. Fagin, Benjamin Yu, Yoko Aoki, Benjamin G. Neel, Allan Balmain, Richard R. Drake, Garry P. Nolan, Martin Zenker, Gideon Bollag, Judith Sebolt-Leopold, Jackson B. Gibbs, Alcino J. Silva, E. Elizabeth Patton, David H. Viskochil, Mark W. Kieran, Bruce R. Korf, Randi J. Hagerman, Roger J. Packer and Teri Melese

    Article first published online : 11 DEC 2009, DOI: 10.1002/ajmg.a.33183

  12. 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

    Federica Tamburrino, Dino Gibertoni, Cesare Rossi, Emanuela Scarano, Annamaria Perri, Francesca Montanari, Maria Pia Fantini, Andrea Pession, Marco Tartaglia and Laura Mazzanti

    Article first published online : 31 JUL 2015, DOI: 10.1002/ajmg.a.37260

  13. You have free access to this content
    Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 3, March 2011, Pages: 486–507, Angela E. Lin, Mark E. Alexander, Steven D. Colan, Bronwyn Kerr, Katherine A. Rauen, Jacqueline Noonan, Jeanne Baffa, Elizabeth Hopkins, Katia Sol-Church, Giuseppe Limongelli, Maria Christina Digilio, Bruno Marino, A. Micheil Innes, Yoko Aoki, Michael Silberbach, Marie-Ange Delrue, Susan M. White, Robert M. Hamilton, William O'Connor, Paul D. Grossfeld, Leslie B. Smoot, Robert F. Padera and Karen W. Gripp

    Article first published online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33857

  14. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis

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

    Volume 157, Issue 2, 15 May 2011, Pages: 104–114, William E. Tidyman, Han S. Lee and Katherine A. Rauen

    Article first published online : 14 APR 2011, DOI: 10.1002/ajmg.c.30298

  15. You have full text access to this OnlineOpen article
    Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations

    Molecular Systems Biology

    Volume 10, Issue 5, May 2014, Christina Kiel and Luis Serrano

    Article first published online : 6 MAY 2014, DOI: 10.1002/msb.20145092

  16. A Novel SHOC2 Variant in Rasopathy

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1290–1294, Vickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, John A. Phillips III and Emilia Galperin

    Article first published online : 11 SEP 2014, DOI: 10.1002/humu.22634

  17. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 468–474, KJ Champion, C Bunag, AL Estep, JR Jones, CH Bolt, RC Rogers, KA Rauen and DB Everman

    Article first published online : 28 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01495.x

  18. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

    British Journal of Dermatology

    Volume 166, Issue 3, March 2012, Pages: 601–607, D.H. Siegel, J.A. Mann, A.L. Krol and K.A. Rauen

    Article first published online : 22 FEB 2012, DOI: 10.1111/j.1365-2133.2011.10744.x

  19. You have free access to this content
    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 1–10, Katherine A. Rauen, Susan M. Huson, Emma Burkitt-Wright, D. Gareth Evans, Said Farschtschi, Rosalie E. Ferner, David H. Gutmann, C. Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F. Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M. Riccardi, Thijs van der Vaart, Miikka Vikkula, David H. Viskochil, Martin Zenker and Meena Upadhyaya

    Article first published online : 12 NOV 2014, DOI: 10.1002/ajmg.a.36793

  20. Cardiofaciocutaneous (CFC) Syndrome

    Standard Article

    eLS

    Ellen Denayer and Eric Legius

    Published Online : 15 SEP 2011, DOI: 10.1002/9780470015902.a0021470