Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example

Published:2012-10 Issue:10 Volume:16 Page:1188-1194
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Pohjola Pia¹,Peippo Maarit²,Penttinen Maila T.³,Elenius Klaus¹⁴⁵,Kääriäinen Helena¹⁶

Affiliation:

1. Department of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, Turku, Finland.

2. Mehiläinen Itäkeskus Helsinki, Outpatient Clinic, Helsinki, Finland.

3. The Clinical Genetics Unit, Department of Pediatrics, Turku University Central Hospital, Turku, Finland.

4. Medicity Research Laboratories, University of Turku, Turku, Finland.

5. Department of Oncology, University of Turku, Turku, Finland.

6. Public Health Genomics Unit, National Institute of Health and Welfare, Helsinki, Finland.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2012.0153

Reference23 articles.

1. Mutation analysis of theNSD1 gene in a group of 59 patients with congenital overgrowth

2. Cole TRP (2005) Sotos Syndrome. In: Cassidy SB, Allanson JE (eds). Management of Genetic Syndromes, 2nd ed. Hoboken, New Jersey, pp 527–538.

3. Sotos syndrome: a study of the diagnostic criteria and natural history.

4. Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory

5. Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

Cited by 2 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. Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects;Gene;2023-01

2. Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature;Frontiers in Genetics;2019-06-19

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