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There are 7960 results for: content related to: Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

  1. 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

    Version of Record online : 7 FEB 2007, DOI: 10.1002/ajmg.a.31619

  2. You have free access to this content
    Genetic disorders associated with macrocephaly

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2023–2037, Charles A. Williams, Aditi Dagli and Agatino Battaglia

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32434

  3. 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

  4. 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

    Version of Record online : 7 AUG 2006, DOI: 10.1002/ajmg.a.31396

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    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

    Version of Record online : 5 NOV 2014, DOI: 10.1002/cncr.29106

  6. 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

    Version of Record online : 29 JAN 2013, DOI: 10.1002/aur.1266

  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

    Version of Record 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. PTEN mutation in a family with Cowden syndrome and autism

    American Journal of Medical Genetics

    Volume 105, Issue 6, 8 August 2001, Pages: 521–524, Aleide Goffin, Lies H. Hoefsloot, Ermanno Bosgoed, Ann Swillen and Jean-Pierre Fryns

    Version of Record online : 26 JUN 2001, DOI: 10.1002/ajmg.1477

  10. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

    Autism Research

    Volume 3, Issue 3, June 2010, Pages: 137–141, Kim L. McBride, Elizabeth A. Varga, Matthew T. Pastore, Thomas W. Prior, Kandamurugu Manickam, Joan F. Atkin and Gail E. Herman

    Version of Record online : 18 MAY 2010, DOI: 10.1002/aur.132

  11. PTEN: One Gene, Many Syndromes

    Human Mutation

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

    Version of Record online : 24 JUL 2003, DOI: 10.1002/humu.10257

  12. 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

    Version of Record online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1999.tb00361.x

  13. 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

    Version of Record online : 4 NOV 2008, DOI: 10.1111/j.1365-4632.2008.03960.x

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    Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration

    The Journal of Physiology

    Volume 590, Issue 4, February 2012, Pages: 777–792, Margaret Sperow, Raymond B. Berry, Ildar T. Bayazitov, Guo Zhu, Suzanne J. Baker and Stanislav S. Zakharenko

    Version of Record online : 10 JAN 2012, DOI: 10.1113/jphysiol.2011.220236

  15. 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

    Version of Record online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32152

  16. “You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)

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

    Volume 148C, Issue 1, 15 February 2008, Pages: 47–55, Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers and Martin B. Delatycki

    Version of Record online : 11 JAN 2008, DOI: 10.1002/ajmg.c.30158

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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

    Version of Record online : 7 OCT 2013, DOI: 10.1002/ajmg.a.36266

  18. 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

    Version of Record online : 18 AUG 2003, DOI: 10.1002/ajmg.a.20477

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    Clinical features of Friedreich's ataxia: classical and atypical phenotypes

    Journal of Neurochemistry

    Volume 126, Issue s1, August 2013, Pages: 103–117, Michael H. Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti and Paola Giunti

    Version of Record online : 17 JUL 2013, DOI: 10.1111/jnc.12317

  20. HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

    Movement Disorders

    Volume 29, Issue 7, June 2014, Pages: 940–943, Martin B. Delatycki, Geneieve Tai, Louise Corben, Eppie M. Yiu, Marguerite V. Evans-Galea, Sarah E.M. Stephenson, Lyle Gurrin, Katrina J. Allen, David Lynch and Paul J. Lockhart

    Version of Record online : 3 JAN 2014, DOI: 10.1002/mds.25795