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There are 27959 results for: content related to: A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

  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 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

  3. 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

  4. 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

  5. You have free access to this content
    4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2540–2550, Weimin Bi, Sau-Wai Cheung, Amy M. Breman and Carlos A. Bacino

    Version of Record online : 10 JUN 2016, DOI: 10.1002/ajmg.a.37796

  6. 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

  7. You have free access to this content
    Poster Abstracts of the ISPD 20th International Conference on Prenatal Diagnosis and Therapy, Berlin, Germany, 10–13 July 2016

    Prenatal Diagnosis

    Volume 36, Issue S1, July 2016, Pages: 23–84,

    Version of Record online : 8 JUL 2016, DOI: 10.1002/pd.4846

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2887–2891, Kathryn Anne Mooneyham, Kenton R. Holden, Sara Cathey, Alka Dwivedi, Barbara R. Dupont and Michael J. Lyons

    Version of Record online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36708

  15. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2003–2012, Isabel Filges, Steven Sparagana, Michael Sargent, Kathryn Selby, Kamilla Schlade-Bartusiak, Gregg T. Lueder, Amy Robichaux-Viehoever, Bradley L. Schlaggar, Joshua S. Shimony and Marwan Shinawi

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.a.36605

  16. 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

  17. 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

  18. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1384–1389, Kosuke Izumi, Amanda Hahn, Laurie Christ, Christine Curtis and Derek E Neilson

    Version of Record online : 12 MAY 2011, DOI: 10.1002/ajmg.a.33959

  19. 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

  20. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2691–2697, Sarah T. South, Heidi Whitby, Teresa Maxwell, Emily Aston, Arthur R. Brothman and John C. Carey

    Version of Record online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32516