Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A-Reference-Cited by-同舟云学术

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Published:2015-04-29 Issue:11 Volume:23 Page:1482-1487
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bronicki Lucas M,Redin Claire,Drunat Severine,Piton Amélie,Lyons Michael,Passemard Sandrine,Baumann Clarisse,Faivre Laurence,Thevenon Julien^ORCID,Rivière Jean-Baptiste,Isidor Bertrand,Gan Grace,Francannet Christine,Willems Marjolaine,Gunel Murat,Jones Julie R,Gleeson Joseph G,Mandel Jean-Louis,Stevenson Roger E,Friez Michael J,Aylsworth Arthur S

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201529.pdf

Reference52 articles.

1. van Bokhoven H : Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet 2011; 45: 81–104.

2. Srivastava AK, Schwartz CE : Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neurosci Biobehav Rev 2014; 46: 161–174.

3. Lubs HA, Stevenson RE, Schwartz CE : Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012; 90: 579–590.

4. Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M : The neurobiology of X-linked intellectual disability. Neuroscientist 2013; 19: 541–552.

5. Piton A, Redin C, Mandel JL : XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013; 93: 368–383.

Cited by 64 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions;Frontiers in Molecular Neuroscience;2024-07-24

2. Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families;Neurogenetics;2024-07-08

3. Design, synthesis, and biological evaluation of some 2-(3-oxo-5,6-diphenyl-1,2,4-triazin-2(3H)-yl)-N-phenylacetamide hybrids as MTDLs for Alzheimer's disease therapy;European Journal of Medicinal Chemistry;2024-05

4. Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7;Cureus;2024-04-02

5. PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports;Frontiers in Psychiatry;2024-01-15