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There are 10383 results for: content related to: Clinical and molecular characterization of a second case of 7p22.1 microduplication

  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. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2426–2432, Anna Brunet, Elisabeth Gabau, Rosa Maria Perich, Laura Valdesoiro, Carme Brun, Maria Rosa Caballín and Miriam Guitart

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31499

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    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

  9. 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

  10. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2508–2511, Jacqueline V. Chui, James D. Weisfeld-Adams, James Tepperberg and Lakshmi Mehta

    Version of Record online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34180

  11. 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

  12. 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

  13. 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

  14. Distal 22q11.2 microduplication encompassing the BCR gene

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3075–3081, Maria Descartes, Judy Franklin, Teresita Diaz de Ståhl, Arkadiusz Piotrowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll and Fady M. Mikhail

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32572

  15. 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

  16. 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

  17. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 4, June 2011, Pages: 493–501, Holly N. Cukier, Daria Salyakina, Sarah F. Blankstein, Joycelyn L. Robinson, Stephanie Sacharow, Deqiong Ma, Harry H. Wright, Ruth K. Abramson, Ramkumar Menon, Scott M. Williams, Jonathan L. Haines, Michael L. Cuccaro, John R. Gilbert and Margaret A. Pericak-Vance

    Version of Record online : 7 APR 2011, DOI: 10.1002/ajmg.b.31188

  18. 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

  19. Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 111–122, Mathilde Nizon, Joris Andrieux, Caroline Rooryck, Marie-Christine de Blois, Emilie Bourel-Ponchel, Béatrice Bourgois, Odile Boute, Albert David, Bruno Delobel, Bénédicte Duban-Bedu, Fabienne Giuliano, Alice Goldenberg, Sarah Grotto, Delphine Héron, Houda Karmous-Benailly, Boris Keren, Didier Lacombe, Jean-Michel Lapierre, Cédric Le Caignec, Eric Le Galloudec, Martine Le Merrer, Anne-Gaëlle Le Moing, Michèle Mathieu-Dramard, Sylvie Nusbaum, Olivier Pichon, Lucile Pinson, Odile Raoul, Marlène Rio, Serge Romana, Agnès Roubertie, Laurence Colleaux, Catherine Turleau, Michel Vekemans, Rima Nabbout and Valérie Malan

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36807

  20. Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2964–2967, Celine Pebrel-Richard, Charles Rouzade, Stephan Kemeny, Eleonore Eymard-Pierre, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Carole Goumy and Philippe Vago

    Version of Record online : 14 AUG 2014, DOI: 10.1002/ajmg.a.36715