De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter-Reference-Cited by-同舟云学术

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De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter

Published:2015-06-10 Issue:10 Volume:167 Page:2327-2333
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Xiao Bing¹²,Xu Huihui¹²,Ye Hui¹²,Hu Qin¹²,Chen Yingwei¹²,Qiu Wenjuan¹³

Affiliation:

1. Xinhua Hospital; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Genetics; Shanghai Institute for Pediatric Research; Shanghai China

3. Department of Pediatric Endocrinology and Genetic Metabolism; Shanghai Institute for Pediatric Research; Shanghai China

Funder

National Natural Science Foundation of China

Major Program of Shanghai Committee Science and Technology

Shanghai Health Bureau

Shanghai School Board

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37179/fullpdf

Reference14 articles.

1. The suppression of brain cold-stable microtubules in mice induces synaptic defects associated with neuroleptic-sensitive behavioral disorders 2002;Andrieux;Genes Dev

2. Mutations causing syndromic autism define an axis of synaptic pathophysiology;Auerbach;Nature,2011

3. N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex;Bellenchi;Genes Dev,2007

4. Microtriplication of 11q24.1: A highly recognizable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability;Beneteau;J Med Genet,2011

5. Activation of metabotropic glutamate receptors prevents neuronal apoptosis in culture;Copani;J Neurochem,1995

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3. Beyond Neuronal Microtubule Stabilization: MAP6 and CRMPS, Two Converging Stories;Frontiers in Molecular Neuroscience;2021-05-05

4. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism;Taiwanese Journal of Obstetrics and Gynecology;2021-01

5. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome;Genome Medicine;2019-04-23

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