Clinical and cytogenomic findings in OAV spectrum
Author:
Affiliation:
1. Department of Morphology and Genetics; Federal University of São Paulo; São Paulo Brazil
2. Department of Radiology; Federal University of São Paulo; São Paulo Brazil
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference56 articles.
1. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly;Ala-Mello;American Journal of Medical Genetics A,2008
2. Genetics of microtia and associated syndromes;Alasti;Journal of Medical Genetics,2009
3. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication;Ballesta-Martínez;American Journal Medical Genetics A,2013
4. Prevalence, prenatal diagnosis and clinical features of oculo-auricul-vertebral spectrum: A registry-based study in Europe;Barisic;European Journal Human Genetics,2014
5. Oculo-auriculo-vertebral spectrum: A review of the literature and genetic update;Beleza-Meireles;Journal Medical Genetics,2014
Cited by 40 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. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities;Genetics in Medicine;2024-04
2. Clinical profiling of pediatric microtia patients: A cross‐sectional analysis at a leading pediatric hospital in Ecuador (2015–2022);Birth Defects Research;2024-01
3. Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System;The Journal of Pediatrics;2023-10
4. Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis;Journal of Craniofacial Surgery;2023-07-21
5. Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome;The Cleft Palate Craniofacial Journal;2023-05-14
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