Published articles related to dup15q syndrome

July 20, 2017
A community response: Advocates embrace new AAN/AES SUDEP guideline

A community response: Advocates embrace new AAN/AES SUDEP guideline

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March 23, 2017
Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1

Authors;Krishnan, V., Stoppel, DC., Nong, Y., Johnson, MA., Nadler, MJ., Ozkaynak, E., Teng, BL., Nagakura, I., Mohammad, F., Silva, MA., Peterson, S., Cruz, TJ., Kasper, EM., Arnaout, R., Anderson, MP

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February 27, 2017
Angelman syndrome and Dup15q syndrome: two rare diseases working together to solve each other's puzzles

Authors: Lauren Pulling (Neurology Central), Jill Silverman and Nathalie Buscher (both University of California, Davis, CA, USA) 

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December 5, 2016
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.

Authors:  Neelroop N. Parikshak, Vivek Swarup, T. Grant Belgard, Manuel Irimia, Gokul Ramaswami, Michael J. Gandal, Christopher Hartl, Virpi Leppa, Luis de la Torre Ubieta, Jerry Huang, Jennifer K. Lowe, Benjamin J. Blencowe, Steve Horvath & Daniel H. Geschwind

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July 19, 2016
The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1

Authors: Huiping Li, Pingping ZhaoQiong XuShifang ShanChunchun HuZilong Qiu & Xiu Xu

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May 12, 2016
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Authors: Anthony R. Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin  Rosie B. Little, Harry Potter, Lyudmila Georgieva  Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Jianxin Shi, Alan R. Sanders, Jubao Duan, Joseph Willis,Sanjay Sisodiya,  Gregory Costain, Thomas M. Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J. Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D. Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C. O’Donovan,Michael J. Owen, Anne Bassett, and  George Kirov

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May 6, 2016
Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome

Charlotte DiStefano, Amanda Gulsrud, Scott Huberty, Connie Kasari, Edwin Cook, Lawrence T. Reiter, Ronald Thibert, and Shafali Spurling Jeste

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May 6, 2016
Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes.

Authors: Keith W. Dunaway7M. Saharul Islam7Rochelle L. CoulsonS. Jesse LopezAnnie Vogel CierniaRoy G. ChuDag H. YasuiIsaac N. PessahPaul LottCharles Mordaunt Makiko Meguro-HorikeShin-ichi HorikeIan KorfJanine M. LaSalle8,'Correspondence information about the author Janine M. LaSalle

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May 6, 2016
A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome

 

Authors: 

  • Published: December 15, 2016
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February 12, 2016
Parental-reported pain insensitivity in Dup15q

Luchsinger K, Lau H, Hedlund JL, Friedman D, Krushel K, Devinsky O

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