Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Published:2017-05-07 Issue:7 Volume:173 Page:1965-1969
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dentici Maria Lisa¹^ORCID,Niceta Marcello¹,Pantaleoni Francesca¹,Barresi Sabina¹,Bencivenga Paola¹,Dallapiccola Bruno¹,Digilio Maria Cristina¹,Tartaglia Marco¹

Affiliation:

1. Genetics and Rare Diseases Research Division; Ospedale Pediatrico Bambino Gesù; IRCCS; Rome Italy

Funder

(Vite Coraggiose to M.T.)

(GeneRare to B.D.)

(RC2017, to M.N., M.L.D. and M.T.)

CINECA (computational resources, to M.T.)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38255/fullpdf

Reference12 articles.

1. Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-Onset encephalopathy;Flex;American Journal of Human Genetics,2016

2. A case of autism spectrum disorder arising from a de novo missense mutation in POGZ;Fukai;Journal of Human Genetics,2015

3. Genome sequencing identifies major causes of severe intellectual disability;Gilissen;Nature,2014

4. Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder;Hashimoto;Journal of Human Genetics,2016

5. De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ;Matsumura;Journal of Molecular Psychiatry,2016

Cited by 24 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. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES);Archives of Gynecology and Obstetrics;2023-08-03

2. Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome;The Journal of International Advanced Otology;2023-06-01

3. Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction;Frontiers in Neurology;2023-05-05

4. White-Sutton syndrome and congenital heart disease: case report and literature review;BMC Pediatrics;2023-04-04

5. Loss of POGZ alters neural differentiation of human embryonic stem cells;Molecular and Cellular Neuroscience;2022-05

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3