Novel c.358C>T mutation ofSOX9gene in prenatal diagnosis of campomelic dysplasia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel c.358C>T mutation ofSOX9gene in prenatal diagnosis of campomelic dysplasia

Published:2014-08 Issue:3 Volume:54 Page:193-194
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Barone Chiara¹,Bartoloni Giovanni²,Baffico A. Maria³,Pappalardo Elisa⁴,Mura Isabella³,Ettore Giuseppe⁴,Bianca Sebastiano¹

Affiliation:

1. Center for Genetic Counseling and Reproductive Teratology; Maternal and Child Health Department; Garibaldi Nesima Hospital; Catania Italy

2. Congenital Anomalies and Perinatal Pathology; Maternal and Child Health Department; Garibaldi Nesima Hospital; Catania Italy

3. Human Genetic Laboratory; Galliera Hospital; Genova Italy

4. Gynecology and Obstetric Unit Maternal and Child Health Department; Garibaldi Nesima Hospital; Catania Italy

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene;Gentilin;Ultrasound Obstet Gynecol,2010

2. Campomelic dysplasia: case report and review;Gimovsky;J Perinatol,2008

3. Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene;Jakubiczka;Clin Dysmorphol,2001

4. The phenotype of survivors of campomelic dysplasia;Mansour;J Med Genet,2002

5. Campomelic Dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases;Massardier;Fetal Diagn Ther,2008

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. Diverse Regulation but Conserved Function: SOX9 in Vertebrate Sex Determination;Genes;2021-03-26

2. Campomelic Dysplasia;Atlas of Genetic Diagnosis and Counseling;2017

3. Campomelic Dysplasia;Atlas of Genetic Diagnosis and Counseling;2016

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