Search Results

There are 17222 results for: content related to: Late-onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

  1. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  2. A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 4, June 2010, Pages: 960–966, Bert van der Zwaag, Wouter G. Staal, Ron Hochstenbach, Martin Poot, Henk A. Spierenburg, Maretha V. de Jonge, Nienke E. Verbeek, Ruben van 't Slot, Michael A. van Es, Frank J. Staal, Christine M. Freitag, Jacobine E. Buizer-Voskamp, Marcel R. Nelen, Leonard H. van den Berg, Hans K. Ploos van Amstel, Herman van Engeland and J. Peter H. Burbach

    Version of Record online : 22 DEC 2009, DOI: 10.1002/ajmg.b.31055

  3. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Version of Record online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  4. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2052–2064, John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine L. Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Fossøy Stadheim, Claire L. S. Turner, Jacqueline N. Gauthier, Tyler E. Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn W. Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma-Jane Taylor and Sarah L. Wynn

    Version of Record online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37120

  5. You have free access to this content
    Patient preferences for prenatal testing of microdeletion and microduplication syndromes

    Prenatal Diagnosis

    Volume 36, Issue 3, March 2016, Pages: 244–251, Elise Calonico, Yair J. Blumenfeld, Louanne Hudgins and Joanne Taylor

    Version of Record online : 27 JAN 2016, DOI: 10.1002/pd.4760

  6. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

    Prenatal Diagnosis

    Volume 35, Issue 1, January 2015, Pages: 35–43, Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Sylvie Jaillard, Jérôme Toutain, Marie-Laure Maurin, Jose Antonio Martínez-Conejero, Claire Beneteau, Aurélie Coussement, Denise Molina-Gomes, Nina Horelli-Kuitunen, Azzedine Aboura, Anne-Claude Tabet, Justine Besseau-Ayasse, Bettina Bessieres-Grattagliano, Giuseppe Simoni, Gustavo Ayala, Brigitte Benzacken and François Vialard

    Version of Record online : 16 SEP 2014, DOI: 10.1002/pd.4478

  7. Association between copy number variants in 16p11.2 and major depressive disorder in a German case–control sample

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 3, April 2012, Pages: 263–273, Franziska Degenhardt, Lutz Priebe, Stefan Herms, Manuel Mattheisen, Thomas W. Mühleisen, Sandra Meier, Susanne Moebus, Jana Strohmaier, Magdalena Groß, René Breuer, Christoph Lange, Per Hoffmann, Andreas Meyer-Lindenberg, Andreas Heinz, Henrik Walter, Susanne Lucae, Christiane Wolf, Bertram Müller-Myhsok, Florian Holsboer, Wolfgang Maier, Marcella Rietschel, Markus M. Nöthen and Sven Cichon

    Version of Record online : 17 FEB 2012, DOI: 10.1002/ajmg.b.32034

  8. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 758–763, Winnie Courtens, Inge Schramme and Annick Laridon

    Version of Record online : 7 FEB 2008, DOI: 10.1002/ajmg.a.31910

  9. You have free access to this content
    408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

    Congenital Anomalies

    Volume 55, Issue 1, February 2015, Pages: 65–70, Gabriele Tonni, Maria Bellotti, Marcella Palmisano, Viola Alesi, Marta Bertoli and Maria Paola Bonasoni

    Version of Record online : 15 JAN 2015, DOI: 10.1111/cga.12078

  10. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 24–35, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Michael G. Harbord, John Entwistle, Suzanna Thompson, Damian Clark, Claire Pridmore, Eric Haan, Christopher Barnett, Lesley McGregor, Jan Liebelt, Elizabeth M. Thompson, Kathryn Friend, Sharon M. Bain, Dr. Sui Yu and John C. Mulley

    Version of Record online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32114

  11. You have full text access to this OnlineOpen article
    Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

    Prenatal Diagnosis

    Volume 32, Issue 10, October 2012, Pages: 976–985, Lisa G. Shaffer, Mindy P. Dabell, Allan J. Fisher, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif and Jill A. Rosenfeld

    Version of Record online : 2 AUG 2012, DOI: 10.1002/pd.3945

  12. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  13. Introductory comments on special section—Genomic microduplications: When adding may equal subtracting

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1063–1065, Carlos A. Bacino and Sau-Wai Cheung

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33346

  14. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

    Prenatal Diagnosis

    Volume 35, Issue 8, August 2015, Pages: 801–809, Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B. Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Hervé, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung, Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni and François Vialard

    Version of Record online : 24 JUN 2015, DOI: 10.1002/pd.4613

  15. Complex autism spectrum disorder in a patient with a 17q12 microduplication

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1170–1177, Tracy Brandt, Khyati Desai, David Grodberg, Lakshmi Mehta, Ninette Cohen, Ana Tryfon, Alexander Kolevzon, Latha Soorya, Joseph D. Buxbaum and Lisa Edelmann

    Version of Record online : 4 APR 2012, DOI: 10.1002/ajmg.a.35267

  16. Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 7, October 2012, Pages: 823–828, Denise Maria Christofolini, Vera Ayres Meloni, Marco Antonio de Paula Ramos, Mariana Moysés Oliveira, Claudia Berlim de Mello, Renata Pellegrino, Sylvia Satomi Takeno and Maria Isabel Melaragno

    Version of Record online : 22 AUG 2012, DOI: 10.1002/ajmg.b.32089

  17. You have free access to this content
    Epilepsy and the new cytogenetics

    Epilepsia

    Volume 52, Issue 3, March 2011, Pages: 423–432, John C. Mulley and Heather C. Mefford

    Version of Record online : 26 JAN 2011, DOI: 10.1111/j.1528-1167.2010.02932.x

  18. Pure subtelomeric microduplications as a cause of mental retardation

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 362–368, EM Ruiter, DA Koolen, T Kleefstra, WM Nillesen, R Pfundt, N De Leeuw, BCJ Hamel, HG Brunner, EA Sistermans and BBA De Vries

    Version of Record online : 31 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00874.x

  19. 7q11.23 Microduplication: a recognizable phenotype

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 155–161, A Dixit, S McKee, S Mansour, SG Mehta, GA Tanteles, V Anastasiadou, PC Patsalis, K Martin, S McCullough, M Suri and A Sarkar

    Version of Record online : 8 APR 2012, DOI: 10.1111/j.1399-0004.2012.01862.x

  20. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Human Mutation

    Volume 31, Issue 7, July 2010, Pages: 840–850, Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet and Pawel Stankiewicz

    Version of Record online : 10 MAY 2010, DOI: 10.1002/humu.21284