Search Results

There are 7111 results for: content related to: Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report

  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

    Article first published online : 23 NOV 2011, DOI: 10.1002/humu.21639

  2. 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

    Article first published online : 27 JUL 2012, DOI: 10.1002/humu.22160

  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

    Article first published online : 5 NOV 2012, DOI: 10.1002/ajmg.b.32109

  4. You have free access to this content
    Development, cognition, and behaviour in Pitt–Hopkins syndrome

    Developmental Medicine & Child Neurology

    Volume 54, Issue 10, October 2012, Pages: 925–931, INGRID D C VAN BALKOM, PIETER JELLE VUIJK, MARIJKE FRANSSENS, HANS W HOEK and RAOUL C M HENNEKAM

    Article first published online : 19 JUN 2012, DOI: 10.1111/j.1469-8749.2012.04339.x

  5. 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

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32419

  6. 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

    Article first published online : 1 MAR 2012, DOI: 10.1002/ajmg.a.34206

  7. Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1685–1689, Daphne Lehalle, Charles Williams, Victoria Mok Siu and Jill Clayton-Smith

    Article first published online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34055

  8. You have free access to this content
    TCF4 Deletions in Pitt-Hopkins Syndrome

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: E242–E251, Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michele Mathieu-Dramard, Gilles Morin, Dominique Martin-Coignard, Christèle Dubourg, Brigitte Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens and Anne Moncla

    Article first published online : 9 SEP 2008, DOI: 10.1002/humu.20859

  9. 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

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01380.x

  10. 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

    Article first published online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35419

  11. 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

    Article first published online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34070

  12. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 669–676, Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Picard, Anne Durandy, Angus Dobbie, Delphine Heron, Bertrand Isidor, Jacques Motte, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, Géraldine Viot, Francis Jaubert, Arnold Munnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet and Jeanne Amiel

    Article first published online : 20 FEB 2009, DOI: 10.1002/humu.20935

  13. Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 198–200, F F Hamdan, H Daoud, L Patry, A Dionne-Laporte, D Spiegelman, S Dobrzeniecka, G A Rouleau and J L Michaud

    Article first published online : 4 JUN 2012, DOI: 10.1111/j.1399-0004.2012.01890.x

  14. Genetic disorders associated with postnatal microcephaly

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

    Volume 166, Issue 2, June 2014, Pages: 140–155, Laurie E. Seltzer and Alex R. Paciorkowski

    Article first published online : 16 MAY 2014, DOI: 10.1002/ajmg.c.31400

  15. Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 73–77, CVM Steinbusch, KEP van Roozendaal, D Tserpelis, EEJ Smeets, TJ Kranenburg-de Koning, KH de Waal, C Zweier, A Rauch, RCM Hennekam, MJ Blok and CTRM Schrander-Stumpel

    Article first published online : 15 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01857.x

  16. You have free access to this content
    If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  17. Pitt–Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 600–601, K Takano, W-H Tan, MB Irons, JR Jones and CE Schwartz

    Article first published online : 24 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01711.x

  18. Acetazolamide for severe apnea in Pitt–Hopkins syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 932–934, Stijn L. Verhulst, J. De Dooy, J. Ramet, N. Bockaert, R. Van Coster, B. Ceulemans and W. De Backer

    Article first published online : 9 MAR 2012, DOI: 10.1002/ajmg.a.35247

  19. Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2621–2623, Toshiki Takenouchi, Tatsuhiko Yagihashi, Hiroyuki Tsuchiya, Chiharu Torii, Kumiko Hayashi, Rika Kosaki, Shinji Saitoh, Takao Takahashi and Kenjiro Kosaki

    Article first published online : 10 AUG 2012, DOI: 10.1002/ajmg.a.35230

  20. You have free access to this content
    Advances in Molecular Genetics of Hirschsprung's Disease

    The Anatomical Record

    Volume 295, Issue 10, October 2012, Pages: 1628–1638, Zhi-Wen Pan and Ji-Cheng Li

    Article first published online : 19 JUL 2012, DOI: 10.1002/ar.22538