Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

Yoshiaki Ohtsu; Kanako Kurata; Mai Takahashi; Takanori Kowase; Hirokazu Arakawa; Shinichiro Sano; Masayo Kagami

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Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

机译：假性甲状旁腺功能低下1a型，在负责Beckwith-Wiedemann综合征的甲基化差异区域发生甲基化不足

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来源
《International journal of pediatric endocrinology》 |2015年第1期|共页
作者
Yoshiaki Ohtsu; Kanako Kurata; Mai Takahashi; Takanori Kowase; Hirokazu Arakawa; Shinichiro Sano; Masayo Kagami;
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中图分类内分泌腺疾病及代谢病;
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入库时间 2022-08-18 09:21:42

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1. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. [J] . Bliek J, Verde G, Callaway J, European journal of human genetics: EJHG . 2009,第5期

机译：Beckwith-Wiedemann综合征的多个母亲甲基化的印迹区域（包括PLAGL1和GNAS基因座）的低甲基化。
2. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations [J] . Maeda Toshiyuki, Higashimoto Ken, Jozaki Kosuke, Genetics in medicine . 2014,第Pta12期

机译：全面和定量的多基因座甲基化分析显示，在伴有突变的Beckwith-Wiedemann综合征中，特定印迹差异化甲基化区域对异常甲基化的敏感性
3. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. [J] . Weinhaeusel A, Thiele S, Hofner M, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2008,第9期

机译：基于PCR的GNAS甲基化区域分析可以方便地诊断Ib型假性甲状旁腺功能减退症。
4. A test for detecting differentially methylated regions [C] . Huh Iksoo, Yi Soojin V., Park Taesung IEEE International Conference on Bioinformatics and Biomedicine . 2015

机译：检测差异甲基化区域的测试
5. Bayesian Functional Data Analysis Over Dependent Regions and Its Application for Identification of Differentially Methylated Regions [D] . Chatterjee, Suvo. 2019

机译：贝叶斯函数数据分析与依赖区域及其鉴定差异甲基化区域的应用
6. Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome [O] . Yoshiaki Ohtsu, Kanako Kurata, Mai Takahashi, 2015

机译：Beckwith-Wiedemann综合征的负责的甲基化差异区域中的甲基化不足的假性甲状旁腺功能低下1a型
7. Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome [O] . Yoshiaki Ohtsu, Kanako Kurata, Mai Takahashi, 2015

机译：Beckwith-Wiedemann综合征的负责的甲基化差异区域中的甲基化不足的假性甲状旁腺功能低下1a型

Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

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