Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

Author:

Bruce Sara123,Hannula-Jouppi Katariina23,Peltonen Jari4,Kere Juha123,Lipsanen-Nyman Marita4

Affiliation:

1. Department of Biosciences and Nutrition (S.B., J.K.), Karolinska Institutet, S-141 57 Huddinge, Sweden

2. Department of Medical Genetics (S.B., K.H.-J., J.K.), University of Helinski, 00014 Helinski, Finland

3. Folkhälsan Institute of Genetics (S.B., K.H.-J., J.K.), Biomedicum Helinski, 00014 Helinski, Finland

4. Hospital for Children and Adolescents (J.P., M.L.-N.), University of Helinski, 00029 Helinski, Finland

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.;Silver;Pediatrics,1953

2. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).;Russell;Proc R Soc Med,1954

3. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.;Wollmann;Eur J Pediatr,1995

4. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.;Price;J Med Genet,1999

5. The Silver-Russell syndrome: a case with sexual ambiguity, and a review of literature.;Marks;Am J Dis Child,1977

Cited by 83 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

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