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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

机译：庙宇综合症和神上绪方综合症的全基因组多位点印迹障碍分析

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Purpose:Recent studies have identified multilocus imprinting disturbances (MLIDs) in a subset of patients with imprinting diseases (IDs) caused by epimutations. We examined MLIDs in patients with Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14).

机译：目的：最近的研究已经确定了由表位变异引起的印记疾病（ID）患者子集中的多位点印记障碍（MLID）。我们检查了Temple综合征（TS14）和Kagami-Ogata综合征（KOS14）患者的MLID。

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期刊名称 NPG Open Access
作者
Masayo Kagami; Keiko Matsubara; Kazuhiko Nakabayashi; Akie Nakamura; Shinichiro Sano; Kohji Okamura; Kenichiro Hata; Maki Fukami; Tsutomu Ogata;
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作者单位

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年(卷),期 -1(19),4
年度 -1
页码 476–482
总页数 7
原文格式 PDF
正文语种
中图分类
关键词
epimutation imprinting Kagami-Ogata syndrome multilocus imprinting disturbance Temple syndrome;

机译：mut变;印记;神上绪方综合征;多位点印记障碍;神庙综合征;

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专利

1. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome [J] . Kagami Masayo, Matsubara Keiko, Nakabayashi Kazuhiko, Genetics in medicine . 2017,第4期

机译：寺庙综合征和kagami-ogata综合征的基因组 - 宽的多层扰动扰动分析
2. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. [J] . Azzi S, Rossignol S, Steunou Human Molecular Genetics . 2009,第24期

机译：在多组与11p15相关的胎儿生长障碍（Russell Silver和Beckwith Wiedemann综合征）中的多基因座甲基化分析显示，在父亲和母亲烙印的基因座上甲基化同时丧失。
3. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci [J] . Salah Azzi1 Sylvie Rossignol1 Virginie Steunou1 Theo Sas1 Nathalie Thibaud1 Fabienne Danton1 Maryline Le Jule1 Claudine Heinrichs2 Sylvie Cabrol1 Christine Gicquel3 Yves Le Bouc1 and Irene Netchine1* Human Molecular Genetics . 2009,第24期

机译：在一大批与11p15相关的胎儿生长障碍（Russell Silver和Beckwith Wiedemann综合征）中的多基因座甲基化分析显示，在父亲和母亲烙印的基因座上甲基化同时丧失
4. Imprinted Anomalies in Fetal and Childhood Growth Disorders: The Model of Russell-Silver and Beckwith-Wiedemann Syndromes [C] . Irene Netchine, Sylvie Rossignol, Salah Azzi, European Society of Pediatric Endocrinology Advanced Seminar in Developmental Endocrinology . 2012

机译：胎儿和儿童生长障碍中的印迹异常：罗素银和Beckwith-Wiedemann综合征的模型
5. Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann. [D] . Chen, Zhiyuan. 2013

机译：大型后代综合症，人类无印记的过度生长综合症Beckwith-Wiedemann的牛模型。
6. Genome-wide methylation analysis in Silver–Russell syndrome Temple syndrome and Prader–Willi syndrome [O] . Kaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, 2020

机译：银罗素综合征寺庙综合征和Prader-Willi综合征的基因组甲基化分析
7. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance [O] . Masayo Kagami, Kaori Hara-Isono, Keiko Matsubara, 2021

机译：ZNF445：在患者中的纯合截断变体，寺庙综合征和多层印记干扰

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

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