Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder-Reference-Cited by-同舟云学术

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Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder

Published:2020-01 Issue:1 Volume:63 Page:103611
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wang Qingming,Huang Xiaoling,Liu Yanhui,Peng Qian,Zhang Yuqiong,Liu Jianxin,Yuan Haiming

Funder

Dongguan Social development project

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference23 articles.

1. AT-hook motifs identified in a wide variety of DNA-binding proteins;Aravind;Nucleic Acids Res.,1998

2. Novel genetic causes for cerebral visual impairment;Bosch;Eur. J. Hum. Genet.,2016

3. A map of general and specialized chromatin readers in mouse tissues generated by label-free interaction proteomics;Eberl;Mol. Cell,2013

4. Whole-Exome sequencing identifies a de novo AHDC1 mutation in a Colombian patient with Xia-Gibbs Syndrome;García-Acero;Mol Syndromol,2017

5. Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome;Guissart;Hum. Mol. Genet.,2015

Cited by 14 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. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature;Molecular Syndromology;2023-09-08

3. Using evolutionary constraint to define novel candidate driver genes in medulloblastoma;Proceedings of the National Academy of Sciences;2023-08-07

4. Using evolutionary constraint to define novel candidate driver genes in medulloblastoma;2022-11-03

5. AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing’s sarcoma cells;PLOS ONE;2022-10-04

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