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There are 23254 results for: content related to: Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

  1. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 4, 5 June 2007, Pages: 484–491, Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Henrik Anckarsäter, Maria Rastam, Christopher J. Smith, Jeremy M. Silverman, Eric Hollander, Marion Leboyer, Christopher Gillberg, Alain Verloes and Catalina Betancur

    Version of Record online : 10 APR 2007, DOI: 10.1002/ajmg.b.30493

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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

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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

  4. 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

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    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

  6. 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

  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. Decreased aggression and increased repetitive behavior in Pten haploinsufficient mice

    Genes, Brain and Behavior

    Volume 14, Issue 2, February 2015, Pages: 145–157, A. E. Clipperton-Allen and D. T. Page

    Version of Record online : 10 FEB 2015, DOI: 10.1111/gbb.12192

  9. Genetics of PTEN Hamartoma Tumour Syndrome

    Standard Article


    Robert T Pilarski

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

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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

  11. Autism-relevant behaviors are minimally impacted by conditional deletion of Pten in oxytocinergic neurons

    Autism Research

    Amy E. Clipperton-Allen, Youjun Chen and Damon T. Page

    Version of Record online : 25 MAY 2016, DOI: 10.1002/aur.1641

  12. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 627–633, Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Livija Medne, Jodie Vento, Kimberly A. Chapman, Brendan Lanpher, Phillip Pearl, Andrea Gropman, Charles Lourenco, John-Steven Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf Bodamer, Simona Orcesi, Saskia A. J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, Carsten Bonnemann, Amy T. Waldman and Marjo S. van der Knaap

    Version of Record online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36309

  13. 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

  14. 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

  15. 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

    Version of Record online : 14 MAR 2006, DOI: 10.1111/j.1365-2133.2006.07196.x

  16. 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

  17. PTEN in colorectal cancer: a report on two Cowden syndrome patients

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 555–562, R Kersseboom, HJ Dubbink, WE Corver, AJP van Tilburg, JW Poley, ME van Leerdam, PN Atmodimedjo, IMBH van de Laar, JM Collée, WNM Dinjens, H Morreau and A Wagner

    Version of Record online : 9 MAR 2011, DOI: 10.1111/j.1399-0004.2011.01639.x

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    Frequent monoallelic deletion of PTEN and its reciprocal associatioin with PIK3CA amplification in gastric carcinoma

    International Journal of Cancer

    Volume 104, Issue 3, 10 April 2003, Pages: 318–327, Do-Sun Byun, Kyucheol Cho, Byung-Kyu Ryu, Min-Goo Lee, Jae-Il Park, Kwon-Seok Chae, Hyo-Jong Kim and Sung-Gil Chi

    Version of Record online : 13 JAN 2003, DOI: 10.1002/ijc.10962

  19. 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

  20. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 145–154, FH Menko, CMF Kneepkens, N De Leeuw, EAJ Peeters, L Van Maldergem, EJ Kamsteeg, R Davidson, L Rozendaal, CA Lasham, CMP Peeters-Scholte, MC Jansweijer, Y Hilhorst-Hofstee, JJP Gille, YM Heins, AWM Nieuwint and EA Sistermans

    Version of Record online : 28 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01026.x