De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference40 articles.
1. Confirmation of proximal 1q duplication using fluorescence in situ hybridization;Chen;Am J Med Genet,1994
2. Trisomy 1q42-qter. Confirmation of a syndrome;Chia;Clin Genet,1988
3. Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2;Clark;Am J Med Genet,1989
4. Robin sequences and complexes: causal heterogeneity and pathogenic/phenotypic variability;Cohen;Am J Med Genet,1999
5. Le syndrome de Pierre Robin. Classification et nouvelle approche thérapeutique;Couly;Arch Fr Pediatr,1988
Cited by 26 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. Mycn deficiency underlies the development of orofacial clefts in mice and humans;Human Molecular Genetics;2021-09-30
2. Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review;Molecular Syndromology;2021
3. Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review;Taiwanese Journal of Obstetrics and Gynecology;2019-01
4. An algorithm for predicting Robin sequence from fetal MRI;Prenatal Diagnosis;2018-03-13
5. Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies;American Journal of Medical Genetics Part A;2016-01-12
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