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There are 20274 results for: content related to: Severe hypertrophic cardiomyopathy in Noonan syndrome—consider sequencing genes encoding sarcomeric proteins

  1. Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome

    Congenital Heart Disease

    Volume 6, Issue 1, January/February 2011, Pages: 41–47, Edward J. Hickey, Rohit Mehta, Maryam Elmi, Kentaro Asoh, Brian W. McCrindle, William G. Williams, Cedric Manlhiot and Lee Benson

    Version of Record online : 26 JAN 2011, DOI: 10.1111/j.1747-0803.2010.00465.x

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    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

    Version of Record online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33857

  3. Cardiac Findings in Noonan Syndrome on Long-term Follow-up

    Congenital Heart Disease

    Volume 9, Issue 2, March/April 2014, Pages: 144–150, John L. Colquitt and Jacqueline A. Noonan

    Version of Record online : 10 JUN 2013, DOI: 10.1111/chd.12102

  4. Noonan Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 569–586, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch38

  5. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1411–1413, Rebecca Hoban, Amy E. Roberts, Laurie Demmer, Reena Jethva and Barbara Shephard

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35318

  6. Hypertrophic cardiomyopathy in Noonan syndrome

    Pediatrics International


    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1996.tb03445.x

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    Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

    Prenatal Diagnosis

    Volume 31, Issue 9, September 2011, Pages: 833–840, M. Bakker, E. Pajkrt, I. B. Mathijssen and C. M. Bilardo

    Version of Record online : 27 JUN 2011, DOI: 10.1002/pd.2782

  8. 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

  9. Unusual Cardiac Phenotype in a Newborn with Noonan Syndrome

    Congenital Heart Disease

    Volume 5, Issue 2, March/April 2010, Pages: 178–181, Ebru Aypar, Semra Atalay, Ercan Tutar and Fikri Demir

    Version of Record online : 30 MAR 2010, DOI: 10.1111/j.1747-0803.2009.00343.x

  10. PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13

    Human Mutation

    Volume 20, Issue 4, October 2002, Pages: 298–304, M. Maheshwari, J. Belmont, S. Fernbach, T. Ho, L. Molinari, I. Yakub, F. Yu, A. Combes, J. Towbin, W. J. Craigen and R. Gibbs

    Version of Record online : 24 SEP 2002, DOI: 10.1002/humu.10129

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    Cognitive functioning of adults with Noonan syndrome: a case–control study

    Genes, Brain and Behavior

    Volume 11, Issue 7, October 2012, Pages: 785–793, E. Wingbermühle, R. L. Roelofs, I. van der Burgt, P. M. Souren, W. M. A. Verhoeven, R. P. C. Kessels and J. I. M. Egger

    Version of Record online : 10 AUG 2012, DOI: 10.1111/j.1601-183X.2012.00821.x

  12. 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

  13. 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

  14. You have full text access to this OnlineOpen article
    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 760–772, Francesca Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria L. Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria F. Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Cirillo Silengo, Giovanni B. Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, Maria C. Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb and Marco Tartaglia

    Version of Record online : 28 APR 2011, DOI: 10.1002/humu.21492

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    Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

    Developmental Medicine & Child Neurology

    Volume 57, Issue 4, April 2015, Pages: 385–392, Elizabeth I Pierpont, Erica Tworog-Dube and Amy E Roberts

    Version of Record online : 3 NOV 2014, DOI: 10.1111/dmcn.12621

  16. Noonan syndrome

    Journal of Paediatrics and Child Health

    Volume 50, Issue 10, October 2014, Pages: E14–E20, Anne M Turner

    Version of Record online : 19 JUL 2011, DOI: 10.1111/j.1440-1754.2010.01970.x

  17. Cardiovascular abnormalities in Noonan syndrome: The clinical findings and treatments

    Pediatrics International

    Volume 38, Issue 1, February 1996, Pages: 84–90, AKIRA ISHIZAWA, SHIN-ICHI OHO, HIDEMI DODO, TATSUO KATORI and SHIN-ICHIRO HOMMA

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1996.tb03444.x

  18. 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

  19. 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

  20. Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases

    Prenatal Diagnosis

    Volume 33, Issue 3, March 2013, Pages: 238–241, A. Gaudineau, B. Doray, E. Schaefer, N. Sananès, G. Fritz, M. Kohler, Y. Alembik, B. Viville, R. Favre and B. Langer

    Version of Record online : 24 JAN 2013, DOI: 10.1002/pd.4051