Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus

Author:

Perez-Nanclares Gustavo1,Romanelli Valeria23,Mayo Sonia4,Garin Intza5,Zazo Celia5,Fernandez-Rebollo Eduardo6,Martínez Francisco4,Lapunzina Pablo23,de Nanclares Guiomar Pérez5,

Affiliation:

1. Endocrinology and Diabetes Research Group (G.P.-N.), Hospital de Cruces, E-48903 Barakaldo, Basque Country, Spain

2. Instituto de Genética Médica y Molecular (V.R., P.L.), Instituto de Investigación Hospital Universitario La Paz, Universidad Autónoma de Madrid, E-28049 Madrid, Spain

3. Centro de Investigación Biomédica en Red de Enfermedades Raras U753 (V.R., P.L.), Instituto de Salud Carlos III, E-28029 Madrid, Spain

4. Unidad de Genetica y Diagnostico Prenatal (S.M., F.M.), Hospital Universitario La Fe, E-46009 Valencia, Spain

5. Molecular (Epi)Genetics Laboratory (I.G., C.Z., G.P.d.N.), Research Unit, Hospital Txagorritxu, E-01009 Vitoria-Gasteiz, Spain

6. Endocrine Unit (E.F.-R.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114

Publisher

The Endocrine Society

Subject

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

Reference42 articles.

1. Mammalian genomic imprinting.;Bartolomei;Cold Spring Harb Perspect Biol,2011

2. Mechanisms of imprinting of the Prader-Willi/Angelman region.;Horsthemke;Am J Med Genet A,2008

3. Beckwith-Wiedemann syndrome.;Weksberg;Eur J Hum Genet,2010

4. Epigenetics in Silver-Russell syndrome.;Rossignol;Best Pract Res Clin Endocrinol Metab,2008

5. Transient neonatal diabetes, a disorder of imprinting.;Temple;J Med Genet,2002

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