A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Published:2018-11-19 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Roberti Domenico,Conforti Renata,Giugliano Teresa,Brogna Barbara,Tartaglione Immacolata,Casale Maddalena,Piluso Giulio,Perrotta Silverio

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference52 articles.

1. Our experiences managing a patient with mandibular duplication and cervical spinal fusion;Al-Ani;J. Craniofac. Surg.,2009

2. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B;Alazami;J. Med. Genet.,2015

3. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort;Ball;Br. J. Haematol.,1996

4. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update;Boria;Hum. Mutat.,2010

5. Best practices for the diagnosis and evaluation of infants with robin sequence: a clinical consensus report;Breugem;JAMA Pediatr.,2016

Cited by 8 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. Transient erythroblastopenia of childhood after COVID-19 infection: a case report;Italian Journal of Pediatrics;2024-07-29

2. Identification of novel mutations in patients with Diamond‐Blackfan anemia and literature review of RPS10 and RPS26 mutations;International Journal of Laboratory Hematology;2023-06-28

3. Genetics of Pierre Robin Syndrome/Sequence;eLS;2022-07-20

4. Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot;BMC Medical Genomics;2022-03-03

5. The SWI/SNF subunit BRG1 affects alternative splicing by changing RNA binding factor interactions with nascent RNA;Molecular Genetics and Genomics;2022-02-20

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