Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference13 articles.
1. Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene;Asegaonkar;Am. J. Med. Genet.,2023
2. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide;Bassan;J. Neurochem.,1999
3. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism;D'Incal;Clin. Epigenet.,2023
4. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP;Helsmoortel;Nat. Genet.,2014
5. The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder;Kikkawa;Brain Res.,2019
Cited by 3 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. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males;Journal of Molecular Neuroscience;2024-01-29
2. Clinical impact and in vitro characterization of ADNP variants in pediatric patients;Molecular Autism;2024-01-22
3. Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series;American Journal of Medical Genetics Part A;2024-01-10
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