Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Intellectual Disability and MBD5[original query] |
---|
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism research : official journal of the International Society for Autism Research 2012 Dec 5 (6): 385-97. Cukier Holly N, Lee Joycelyn M, Ma Deqiong, Young Juan I, Mayo Vera, Butler Brittany L, Ramsook Sandhya S, Rantus Joseph A, Abrams Alexander J, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Haines Jonathan L, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John |
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC medical genetics 2014 15 (1): 62. Du Xiaonan, An Yu, Yu Lifei, Liu Renchao, Qin Yanrong, Guo Xiaohong, Sun Daokan, Zhou Shuizhen, Wu Bailin, Jiang Yong-Hui, Wang |
De novo mutations in moderate or severe intellectual disability. PLoS genetics 2014 Oct 10 (10): e1004772. Hamdan Fadi F, Srour Myriam, Capo-Chichi Jose-Mario, Daoud Hussein, Nassif Christina, Patry Lysanne, Massicotte Christine, Ambalavanan Amirthagowri, Spiegelman Dan, Diallo Ousmane, Henrion Edouard, Dionne-Laporte Alexandre, Fougerat Anne, Pshezhetsky Alexey V, Venkateswaran Sunita, Rouleau Guy A, Michaud Jacques |
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene. Journal of Alzheimer's disease : JAD 2021 8 84 (1): 73-78. González-Ortega Guillermo, Llamas-Velasco Sara, Arteche-López Ana, Quesada-Espinosa Juan Francisco, Puertas-Martín Verónica, Gómez-Grande Adolfo, López-Álvarez Jorge, Saiz Díaz Rosa Ana, Lezana-Rosales José Miguel, Villarejo-Galende Alberto, González de la Aleja Jes |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: