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There are 9580 results for: content related to: Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

  1. Further characterization of the new microdeletion syndrome of 16p11.2–p12.2

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1200–1204, Agatino Battaglia, Antonio Novelli, Laura Bernardini, Roberta Igliozzi and Barbara Parrini

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32847

  2. You have full text access to this OnlineOpen article
    Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 2, July 2013, Pages: 87–97, Tracy Tucker, Sylvie Giroux, Valérie Clément, Sylvie Langlois, Jan M. Friedman and François Rousseau

    Version of Record online : 21 MAY 2013, DOI: 10.1002/mgg3.12

  3. 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions

    Autism Research

    Volume 8, Issue 5, October 2015, Pages: 507–521, Mu Yang, Elena J. Mahrt, Freeman Lewis, Gillian Foley, Thomas Portmann, Ricardo E. Dolmetsch, Christine V. Portfors and Jacqueline N. Crawley

    Version of Record online : 7 FEB 2015, DOI: 10.1002/aur.1465

  4. The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

    American Journal of Medical Genetics Part A

    Volume 155, Issue 5, May 2011, Pages: 1066–1072, Daniela Q.C.M. Barge-Schaapveld, Saskia M. Maas, Abeltje Polstra, Lia C. Knegt and Raoul C.M. Hennekam

    Version of Record online : 4 APR 2011, DOI: 10.1002/ajmg.a.33991

  5. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 2, March 2011, Pages: 225–232, Yiping Shen, Xiaoli Chen, Liwen Wang, Jin Guo, Jianliang Shen, Yu An, Haitao Zhu, Yanli Zhu, Ruolei Xin, Yihua Bao, James F. Gusella, Ting Zhang and Bai-Lin Wu

    Version of Record online : 28 DEC 2010, DOI: 10.1002/ajmg.b.31147

  6. You have free access to this content
    Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions

    Obesity

    Volume 22, Issue 12, December 2014, Pages: 2625–2631, Richard Gill, Qixuan Chen, Debra D'Angelo and Wendy K. Chung

    Version of Record online : 19 SEP 2014, DOI: 10.1002/oby.20892

  7. Duplication 16p11.2 in a child with infantile seizure disorder

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1567–1574, Jirair K. Bedoyan, Ravinesh A. Kumar, Jyotsna Sudi, Faye Silverstein, Todd Ackley, Ramaswamy K. Iyer, Susan L. Christian and Donna M. Martin

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33415

  8. A clinical study of patients with pericentromeric deletion and duplication within 16p12.2–p11.2

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 213–219, Nobuhiko Okamoto, Tatsuya Fujii, Junko Tanaka, Kazumasa Saito, Takeshi Matsui and Naoki Harada

    Version of Record online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36217

  9. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

    American Journal of Medical Genetics Part A

    Kyle J. Steinman, Sarah J. Spence, Melissa B. Ramocki, Monica B. Proud, Sudha K. Kessler, Elysa J. Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K. Chung, Elliott H. Sherr and on behalf of the Simons VIP Consortium

    Version of Record online : 13 JUL 2016, DOI: 10.1002/ajmg.a.37820

  10. 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

  11. Duplication of chromosome region (16)(p11.2 [RIGHTWARDS ARROW] p12.1) in a mother and daughter with mild mental retardation

    American Journal of Medical Genetics

    Volume 109, Issue 2, 22 April 2002, Pages: 149–153, J.J.M. Engelen, C.E.M. de Die-Smulders, R. Dirckx, W.M.A. Verhoeven, S. Tuinier, L.M.G. Curfs and A.J.H. Hamers

    Version of Record online : 14 MAR 2002, DOI: 10.1002/ajmg.10287

  12. Microdeletion of 16p11.2 associated with endocardial fibroelastosis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2383–2386, Surasak Puvabanditsin, Michael S. Nagar, Meera Joshi, George Lambert, Eugene Garrow and Erik Brandsma

    Version of Record online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33562

  13. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1118–1126, Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni and Marwan Shinawi

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36401

  14. 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

  15. 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

  16. The genetic variability and commonality of neurodevelopmental disease

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 2, 15 May 2012, Pages: 118–129, Bradley P. Coe, Santhosh Girirajan and Evan E. Eichler

    Version of Record online : 12 APR 2012, DOI: 10.1002/ajmg.c.31327

  17. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3120–3123, Tanya M. Bardakjian, Simon Kwok, Anne M. Slavotinek and Adele S. Schneider

    Version of Record online : 16 NOV 2010, DOI: 10.1002/ajmg.a.33492

  18. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

    Human Brain Mapping

    Volume 37, Issue 8, August 2016, Pages: 2833–2848, Yi Shin Chang, Julia P. Owen, Nicholas J. Pojman, Tony Thieu, Polina Bukshpun, Mari L.J. Wakahiro, Elysa J. Marco, Jeffrey I. Berman, John E. Spiro, Wendy K. Chung, Randy L. Buckner, Timothy P.L. Roberts, Srikantan S. Nagarajan, Elliott H. Sherr and Pratik Mukherjee

    Version of Record online : 24 MAY 2016, DOI: 10.1002/hbm.23211

  19. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1462–1471, Nader Ghebranious, Philip F. Giampietro, Frederic P. Wesbrook and Shereif H. Rezkalla

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31837

  20. Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 712–716, Graeme A. M. Nimmo, Andrea Guerin, Ramses Badilla-Porras, Dimitri J. Stavropoulos, Grace Yoon and Melissa T. Carter

    Version of Record online : 8 DEC 2015, DOI: 10.1002/ajmg.a.37483