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There are 6605 results for: content related to: Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

  1. PTEN: One Gene, Many Syndromes

    Human Mutation

    Volume 22, Issue 3, September 2003, Pages: 183–198, Charis Eng

    Article first published online : 24 JUL 2003, DOI: 10.1002/humu.10257

  2. You have free access to this content
    Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 6, 15 March 2007, Pages: 589–593, Gail E. Herman, Eric Butter, Benedicta Enrile, Matthew Pastore, Thomas W. Prior and Annemarie Sommer

    Article first published online : 7 FEB 2007, DOI: 10.1002/ajmg.a.31619

  3. Constipation, polyps, or cancer? let PTEN predict your future

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 4, 1 November 2003, Pages: 315–322, Charis Eng

    Article first published online : 18 AUG 2003, DOI: 10.1002/ajmg.a.20477

  4. PTEN Hamartoma Tumor Syndrome

    Management of Genetic Syndromes

    Emily Edelman, Charis Eng, Pages: 661–675, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch44

  5. Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1965–1969, Loredana Boccone, Valentina Dessì, Antonietta Zappu, Silvia Piga, Maria Bonaria Piludu, Marco Rais, Carlo Massidda, Stefano De Virgiliis, Antonio Cao and Georgios Loudianos

    Article first published online : 7 AUG 2006, DOI: 10.1002/ajmg.a.31396

  6. Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: An international, multicenter, prospective study


    Volume 121, Issue 5, March 1, 2015, Pages: 688–696, Haider Mahdi, Jessica L. Mester, Emily A. Nizialek, Joanne Ngeow, Chad Michener and Charis Eng

    Article first published online : 5 NOV 2014, DOI: 10.1002/cncr.29106

  7. Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

    Clinical Genetics

    Volume 75, Issue 2, February 2009, Pages: 195–198, A Orrico, L Galli, S Buoni, A Orsi, G Vonella and V Sorrentino

    Article first published online : 28 AUG 2008, DOI: 10.1111/j.1399-0004.2008.01074.x

  8. Genetics of PTEN Hamartoma Tumour Syndrome

    Standard Article


    Robert T Pilarski

    Published Online : 15 JUL 2014, DOI: 10.1002/9780470015902.a0025733

  9. Mendelian genetics of rare—and not so rare—cancers

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 70–82, Charis Eng

    Article first published online : 28 SEP 2010, DOI: 10.1111/j.1749-6632.2010.05789.x

  10. Autism spectrum disorders: The quest for genetic syndromes

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 327–366, Dimitrios I. Zafeiriou, Athina Ververi, Vaios Dafoulis, Efrosini Kalyva and Euthymia Vargiami

    Article first published online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32152

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    PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2902–2908, Maria Piccione, Tiziana Fragapane, Vincenzo Antona, Daniela Giachino, Francesco Cupido and Giovanni Corsello

    Article first published online : 7 OCT 2013, DOI: 10.1002/ajmg.a.36266

  12. A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: Potential molecular pathogenic mechanisms

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1522–1527, Joseph J. Pinzone, Charis Eng, Julie Paik, Kathleen A. Brindle, Matthew D. Ringel and James D. Katz

    Article first published online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31786

  13. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

    American Journal of Medical Genetics

    Volume 80, Issue 4, 4 December 1998, Pages: 399–402, Roberto T. Zori, Debbie J. Marsh, Gail E. Graham, Errol B. Marliss and Charis Eng

    Article first published online : 15 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981204)80:4<399::AID-AJMG18>3.0.CO;2-O

  14. Is colorectal surveillance indicated in patients with PTEN mutations?

    Colorectal Disease

    Volume 14, Issue 9, September 2012, Pages: e562–e566, M. H. Nieuwenhuis, C. M. Kets, M. Murphy-Ryan, C. Colas, P. Möller, F. J. Hes, S. V. Hodgson, M. J. W. Olderode-Berends, S. Aretz, K. Heinimann, E. B. Gomez Garcia, F. Douglas, A. Spigelman, S. Timshel, N. M. Lindor and H. F. A. Vasen

    Article first published online : 22 AUG 2012, DOI: 10.1111/j.1463-1318.2012.03121.x

  15. You have free access to this content
    Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome

    Journal of Surgical Oncology

    Volume 111, Issue 1, January 1, 2015, Pages: 125–130, Jessica Mester and Charis Eng

    Article first published online : 11 AUG 2014, DOI: 10.1002/jso.23735

  16. Identification of PTEN mutations in five families with Bannayan-Zonana syndrome

    Experimental Dermatology

    Volume 8, Issue 2, April 1999, Pages: 134–139, J. Tok Çelebi, F. F. Chen, H. Zhang, X. L. Ping, H. C. Tsou and M. Peacocke

    Article first published online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1999.tb00361.x

  17. PTEN mosaicism with features of Cowden syndrome

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 593–595, A Gammon, K Jasperson, R Pilarski, TW Prior and S Kuwada

    Article first published online : 20 JAN 2013, DOI: 10.1111/cge.12078

  18. Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view

    International Journal of Dermatology

    Volume 47, Issue s1, November 2008, Pages: 45–48, Jaap J. A. J. Van Der Velden, Maaike Vreeburg, Eric E. J. Smeets, Constance T. R. M. Schrander-Stumpel and Maurice A. M. Van Steensel

    Article first published online : 4 NOV 2008, DOI: 10.1111/j.1365-4632.2008.03960.x

  19. Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

    Autism Research

    Volume 6, Issue 1, February 2013, Pages: 51–56, Steven Klein, Pantea Sharifi-Hannauer and Julian A. Martinez-Agosto

    Article first published online : 29 JAN 2013, DOI: 10.1002/aur.1266

  20. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

    British Journal of Dermatology

    Volume 154, Issue 6, June 2006, Pages: 1194–1198, A. Loffeld, N.J. McLellan, T. Cole, S.J. Payne, D. Fricker and C. Moss

    Article first published online : 14 MAR 2006, DOI: 10.1111/j.1365-2133.2006.07196.x