PMC Links for Nucleotide (Select 116734669) - PMC

Select item 68777481.

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

Fengchang Qiao, Binbin Shao, Chen Wang, Yan Wang, Ran Zhou, Gang Liu, Lulu Meng, Ping Hu, Zhengfeng Xu

Front Genet. 2019; 10: 1194. Published online 2019 Nov 19. doi: 10.3389/fgene.2019.01194

PMCID:: PMC6877748

Select item 54238272.

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

Clark R. Murray, Samantha N. Abel, Matthew B. McClure, Joseph Foster, II, Maria I. Walke, Parul Jayakar, Guney Bademci, Mustafa Tekin

J Pediatr Genet. 2017 Jun; 6(2): 77–83. Published online 2017 Feb 14. doi: 10.1055/s-0037-1598639

PMCID:: PMC5423827

Abstract Article PDF–1.4M

Select item 47190103.

Direct Transcriptional Effects of Apolipoprotein E

Veena Theendakara, Clare A. Peters-Libeu, Patricia Spilman, Karen S. Poksay, Dale E. Bredesen, Rammohan V. Rao

J Neurosci. 2016 Jan 20; 36(3): 685–700. doi: 10.1523/JNEUROSCI.3562-15.2016

PMCID:: PMC4719010

Abstract Article PDF–3.8M

Select item 45479164.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Deana Li, David Amaral, Francesca Cristofoli, Hilde Peeters, Eric Haan, Corrado Romano, Heather C. Mefford, Ingrid Scheffer, Jozef Gecz, Bert B.A. de Vries, Evan E. Eichler

Mol Psychiatry. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Mol Psychiatry. 2016 Jan; 21(1): 126–132. Published online 2015 Feb 24. doi: 10.1038/mp.2015.5

PMCID:: PMC4547916

Abstract Article PDF–477K

Select item 30803695.

Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21

Valerio Costa, Claudia Angelini, Luciana D'Apice, Margherita Mutarelli, Amelia Casamassimi, Linda Sommese, Maria Assunta Gallo, Marianna Aprile, Roberta Esposito, Luigi Leone, Aldo Donizetti, Stefania Crispi, Monica Rienzo, Berardo Sarubbi, Raffaele Calabrò, Marco Picardi, Paola Salvatore, Teresa Infante, Piergiuseppe De Berardinis, Claudio Napoli, Alfredo Ciccodicola

PLoS One. 2011; 6(4): e18493. Published online 2011 Apr 20. doi: 10.1371/journal.pone.0018493

PMCID:: PMC3080369

Abstract Article PDF–1.0M

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