Meckel syndrome: Clinical and mutation profile in six fetuses
Author:
Affiliation:
1. Department of Medical Genetics, Kasturba Medical College, ManipalManipal Academy of Higher Education Manipal India
2. Department of Molecular Medicine and Surgery and Center for Molecular MedicineKarolinska Institute Stockholm Sweden
Funder
Indian Council of Medical Research
Karolinska Institutet
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13623
Reference19 articles.
1. Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
2. Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects
3. Meckel syndrome: what are the minimum diagnostic criteria?
4. Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
5. Characterizing the morbid genome of ciliopathies
Cited by 15 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. Novel homozygous mutations in TXNDC15 causing Meckel syndrome;Molecular Genetics & Genomic Medicine;2023-12-29
2. First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family;Molecular Genetics & Genomic Medicine;2023-12-11
3. Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation;Medicine;2022-08-12
4. Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing;Molecular Genetics & Genomic Medicine;2022-03-30
5. The role of alternative splicing in CEP290-related disease pathogenesis;2022-03-04
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