Search Results

There are 4783 results for: content related to: PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

  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. 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

  3. 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

  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. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. Developmental perspectives on copy number abnormalities of the 22q11.2 region

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 201–218, TY Tan, CT Gordon, DJ Amor and PG Farlie

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01456.x

  16. 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

  17. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2479–2483, Adriano Bonaldi, Juliana F. Mazzeu, Silvia S. Costa, Rachel S. Honjo, Débora R. Bertola, Lilian M.J. Albano, Isabel M. Furquim, Chong A. Kim and Angela M. Vianna-Morgante

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34023

  18. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 318–325, S. Lohan, M. Spielmann, S.C. Doelken, R. Flöttmann, F. Muhammad, S.M. Baig, M. Wajid, W. Hülsemann, R. Habenicht, K.W. Kjaer, S.J. Patil, K.M. Girisha, H.H. Abarca-Barriga, S. Mundlos and E. Klopocki

    Version of Record online : 17 FEB 2014, DOI: 10.1111/cge.12352

  19. Clinical and molecular characterization of a second case of 7p22.1 microduplication

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1200–1203, Egle Preiksaitiene, Jurate Kasnauskiene, Zivile Ciuladaite, Birute Tumiene, Philippos C. Patsalis and Vaidutis Kučinskas

    Version of Record online : 11 APR 2012, DOI: 10.1002/ajmg.a.35300

  20. Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1620–1627, W. Lu, C.A. Bacino, B.S. Richards, C. Alvarez, J.E. VanderMeer, M. Vella, N. Ahituv, N. Sikka, F.R. Dietz, S.H. Blanton and J.T. Hecht

    Version of Record online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35418