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There are 29961 results for: content related to: Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome

  1. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 64–72, Sandra Whalen, Delphine Héron, Thierry Gaillon, Oana Moldovan, Massimiliano Rossi, Françoise Devillard, Fabienne Giuliano, Gabriela Soares, Michelle Mathieu-Dramard, Alexandra Afenjar, Perrine Charles, Cyril Mignot, Lydie Burglen, Lionel Van Maldergem, Juliette Piard, Salim Aftimos, Grazia Mancini, Patricia Dias, Nicole Philip, Alice Goldenberg, Martine Le Merrer, Marlène Rio, Dragana Josifova, Johanna Maria Van Hagen, Didier Lacombe, Patrick Edery, Sophie Dupuis-Girod, Audrey Putoux, Damien Sanlaville, Richard Fischer, Loïc Drévillon, Audrey Briand-Suleau, Corinne Metay, Michel Goossens, Jeanne Amiel, Aurelia Jacquette and Irina Giurgea

    Version of Record online : 23 NOV 2011, DOI: 10.1002/humu.21639

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    Transcription Factor TCF4 Maintains the Properties of Human Corneal Epithelial Stem Cells

    STEM CELLS

    Volume 30, Issue 4, April 2012, Pages: 753–761, Rong Lu, Yangluowa Qu, Jian Ge, Lili Zhang, Zhitao Su, Stephen C. Pflugfelder and De-Quan Li

    Version of Record online : 22 MAR 2012, DOI: 10.1002/stem.1032

  3. TCF4 (e2-2; ITF2): A schizophrenia-associated gene with pleiotropic effects on human disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 1–16, Katherinne Navarrete, Inti Pedroso, Simone De Jong, Hreinn Stefansson, Stacy Steinberg, Kari Stefansson, Roel A. Ophoff, Leonard C. Schalkwyk and David A. Collier

    Version of Record online : 5 NOV 2012, DOI: 10.1002/ajmg.b.32109

  4. Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1676–1686, Marc Forrest, Ria M. Chapman, A. Michelle Doyle, Caroline L. Tinsley, Adrian Waite and Derek J. Blake

    Version of Record online : 27 JUL 2012, DOI: 10.1002/humu.22160

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    Hindgut defects and transformation of the gastro-intestinal tract in Tcf4−/−/Tcf1−/− embryos

    The EMBO Journal

    Volume 23, Issue 8, April 21, 2004, Pages: 1825–1833, Alex Gregorieff, Rudolf Grosschedl and Hans Clevers

    Version of Record online : 1 APR 2004, DOI: 10.1038/sj.emboj.7600191

  6. The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1536–1545, Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Serena Lattante, Marina Murdolo, Bruno Dallapiccola, Chiara Biscione, Rosetta Lecce, Pietro Chiurazzi, Corrado Romano, Donatella Greco, Rosa Pettinato, Giovanni Sorge, Chiara Pantaleoni, Enrico Alfei, Irene Toldo, Cinzia Magnani, Paolo Bonanni, Federica Martinez, Gigliola Serra, Domenica Battaglia, Donatella Lettori, Gessica Vasco, Anna Baroncini, Cecilia Daolio and Marcella Zollino

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34070

  7. Transcription factor Egr1 acts as an upstream regulator of β-catenin signalling through up-regulation of TCF4 and p300 expression during trans-differentiation of endometrial carcinoma cells

    The Journal of Pathology

    Volume 216, Issue 4, December 2008, Pages: 521–532, M Saegusa, M Hashimura, T Kuwata, M Hamano, J Watanabe, M Kawaguchi and I Okayasu

    Version of Record online : 14 JUL 2008, DOI: 10.1002/path.2404

  8. Investigation of the role of TCF4 rare sequence variants in schizophrenia

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 168, Issue 5, July 2015, Pages: 354–362, F. Buket Basmanav, Andreas J. Forstner, Heide Fier, Stefan Herms, Sandra Meier, Franziska Degenhardt, Per Hoffmann, Sandra Barth, Nadine Fricker, Jana Strohmaier, Stephanie H. Witt, Michael Ludwig, Christine Schmael, Susanne Moebus, Wolfgang Maier, Rainald Mössner, Dan Rujescu, Marcella Rietschel, Christoph Lange, Markus M. Nöthen and Sven Cichon

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.b.32318

  9. A Tcf4-GFP reporter mouse model for monitoring effects of Apc mutations during intestinal tumorigenesis

    Molecular Carcinogenesis

    Volume 48, Issue 9, September 2009, Pages: 821–831, Bruce Boman, Levy Kopelovich, Linda D. Siracusa, Tao Zhang, Kim Henderson, Zenobia Cofer, Arthur M. Buchberg, Jeremy Z. Fields and Tomas Otevrel

    Version of Record online : 4 MAR 2009, DOI: 10.1002/mc.20526

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    T-cell factor 4 (Tcf7l2) maintains proliferative compartments in zebrafish intestine

    EMBO reports

    Volume 8, Issue 10, October 2007, Pages: 966–973, Vanesa Muncan, Ana Faro, Anna-Pavlina G Haramis, Adam F L Hurlstone, Erno Wienholds, Johan van Es, Jeroen Korving, Harry Begthel, Danica Zivkovic and Hans Clevers

    Version of Record online : 7 SEP 2007, DOI: 10.1038/sj.embor.7401071

  11. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 282–288, K Takano, M Lyons, C Moyes, J Jones and CE Schwartz

    Version of Record online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01380.x

  12. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 713–719, Roksana Armani, Hayley Archer, Angus Clarke, Pradeep Vasudevan, Christiane Zweier, Gladys Ho, Sarah Williamson, Desiree Cloosterman, Nan Yang and John Christodoulou

    Version of Record online : 1 MAR 2012, DOI: 10.1002/ajmg.a.34206

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    The kinase TNIK is an essential activator of Wnt target genes

    The EMBO Journal

    Volume 28, Issue 21, November 4, 2009, Pages: 3329–3340, Tokameh Mahmoudi, Vivian S W Li, Ser Sue Ng, Nadia Taouatas, Robert G J Vries, Shabaz Mohammed, Albert J Heck and Hans Clevers

    Version of Record online : 8 OCT 2009, DOI: 10.1038/emboj.2009.285

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    JNK signalling modulates intestinal homeostasis and tumourigenesis in mice

    The EMBO Journal

    Volume 28, Issue 13, July 8, 2009, Pages: 1843–1854, Rocio Sancho, Abdolrahman S Nateri, Amaya Garcia de Vinuesa, Cristina Aguilera, Emma Nye, Bradley Spencer-Dene and Axel Behrens

    Version of Record online : 11 JUN 2009, DOI: 10.1038/emboj.2009.153

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    TRIB2 inhibits Wnt/β-Catenin/TCF4 signaling through its associated ubiquitin E3 ligases, β-TrCP, COP1 and Smurf1, in liver cancer cells

    FEBS Letters

    Volume 588, Issue 23, November 28, 2014, Pages: 4334–4341, Shanshan Xu, Minghong Tong, Jingqin Huang, Yue Zhang, Yongxia Qiao, Wenhao Weng, Weiwei Liu, Jiayi Wang and Fenyong Sun

    Version of Record online : 13 OCT 2014, DOI: 10.1016/j.febslet.2014.09.042

  16. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2053–2059, Vera M. Kalscheuer, Ilse Feenstra, Conny M.A. Van Ravenswaaij-Arts, Dominique F.C.M. Smeets, Corinna Menzel, Reinhard Ullmann, Luciana Musante and Hans-Hilger Ropers

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32419

  17. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3174–3181, Massimiliano Rossi, Audrey Labalme, Marie-Pierre Cordier, Marianne Till, Gaëlle Blanchard, Remi Dubois, Laurent Guibaud, Sophie Heissat, Etienne Javouhey, Alain Lachaux, Pierre-Yves Mure, Dorothée Ville, Patrick Edery and Damien Sanlaville

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35588

  18. You have full text access to this OnlineOpen article
    Krueppel-like factor 15 regulates Wnt/β-catenin transcription and controls cardiac progenitor cell fate in the postnatal heart

    EMBO Molecular Medicine

    Volume 4, Issue 9, September 2012, Pages: 992–1007, Claudia Noack, Maria-Patapia Zafiriou, Hans-Joerg Schaeffer, Anke Renger, Elena Pavlova, Rainer Dietz, Wolfram H. Zimmermann, Martin W. Bergmann and Laura C. Zelarayán

    Version of Record online : 5 JUL 2012, DOI: 10.1002/emmm.201101043

  19. Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1604–1611, Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Romano Tenconi, Matteo Della Monica, Gioacchino Scarano, Domenica Battaglia, Donatella Lettori, Gessica Vasco and Marcella Zollino

    Version of Record online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35419

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    Cell type- and promoter-dependent modulation of the Wnt signaling pathway by sodium butyrate

    International Journal of Cancer

    Volume 97, Issue 1, 1 January 2002, Pages: 42–51, Michael Bordonaro, Darina L. Lazarova, Leonard H. Augenlicht and Alan C. Sartorelli

    Version of Record online : 6 OCT 2001, DOI: 10.1002/ijc.1577