Síndrome Schinzel-Giedion: nueva mutación en SETBP1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Síndrome Schinzel-Giedion: nueva mutación en SETBP1

Published:2015-01 Issue:1 Volume:82 Page:e12-e16
ISSN:1695-4033
Container-title:Anales de Pediatría
language:es
Short-container-title:Anales de Pediatría

Author:

López-González V.,Domingo-Jiménez M.R.,Burglen L.,Ballesta-Martínez M.J.,Whalen S.,Piñero-Fernández J.A.,Guillén-Navarro E.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria;Lehman;Am J Med Genet,2008

2. New finding in Schinzel Giedion syndrome: A case with malignant sacrococcygeal teratoma;Robin;Am J Med Genet,1993

3. Sacral tumors in Schinzel-Giedion syndrome;McPherson;Am J Med Genet,1998

4. Schinzel-Giedion syndrome with sacrococcygeal teratoma;Sandri;J Pediatr Hematol Oncol,2003

5. Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome;Matsumoto;Int J Urol,2005

Cited by 13 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 SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature;BMC Pediatrics;2024-05-06

2. The impact of SETBP1 mutations in neurological diseases and cancer;Genes to Cells;2023-07-25

3. Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome;Frontiers in Pediatrics;2022-09-06

4. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate;Italian Journal of Pediatrics;2020-05-27

5. A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome;American Journal of Medical Genetics Part A;2020-05-22

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