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There are 6242 results for: content related to: 7q11.23 Microduplication: a recognizable phenotype

  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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  2. Aortopathy in the 7q11.23 microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 363–370, Ashley Parrott, Jeanne James, Paula Goldenberg, Robert B. Hinton, Erin Miller, Amy Shikany, Arthur S. Aylsworth, Kathleen Kaiser-Rogers, Sunita J. Ferns, Seema R. Lalani and Stephanie M. Ware

    Article first published online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36859

  3. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33346

  4. 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

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31499

  5. 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

    Article first published online : 7 FEB 2008, DOI: 10.1002/ajmg.a.31910

  6. 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

    Article first published online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  7. 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

    Article first published online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32114

  8. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  9. 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

    Article first published online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34023

  10. You have free access to this content
    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

    Article first published online : 16 SEP 2014, DOI: 10.1002/pd.4478

  11. 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

    Article first published online : 4 APR 2012, DOI: 10.1002/ajmg.a.35267

  12. 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

    Article first published online : 17 FEB 2012, DOI: 10.1002/ajmg.b.32034

  13. 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

    Article first published online : 31 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00874.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

    Article first published online : 10 MAY 2010, DOI: 10.1002/humu.21284

  15. 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

    Article first published online : 2 AUG 2012, DOI: 10.1002/pd.3945

  16. 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

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12352

  17. Prenatal BACs-on-BeadsTM: the prospective experience of five prenatal diagnosis laboratories

    Prenatal Diagnosis

    Volume 32, Issue 4, April 2012, Pages: 329–335, François Vialard, Giuseppe Simoni, Denise Molina Gomes, Azzedine Abourra, Simona De Toffol, Fabrice Bru, Maria Carmen Martinez Romero, Lucio Nitsch, Philippe Bouhanna, Livia Marcato, Thomas Popowski, Beatrice Grimi, Jose Antonio Martínez-Conejero, B. Benzacken, Rita Genesio and Francesca R. Grati

    Article first published online : 30 MAR 2012, DOI: 10.1002/pd.2934

  18. Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

    Prenatal Diagnosis

    Volume 31, Issue 6, June 2011, Pages: 571–577, Christopher Konialis, Birgitta Hagnefelt, Sophia Sevastidou, Sophia Karapanou, Katerina Pispili, Aggeliki Markaki and Constantinos Pangalos

    Article first published online : 29 MAR 2011, DOI: 10.1002/pd.2750

  19. Microdeletion Syndromes

    Standard Article

    eLS

    Anne Slavotinek

    Published Online : 15 JAN 2012, DOI: 10.1002/9780470015902.a0005549.pub2

  20. 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

    Article first published online : 11 APR 2012, DOI: 10.1002/ajmg.a.35300