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MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

机译：丹麦患者的MECP2突变患者的RETT综合征：突变的高频率，但与临床严重程度没有一致的相关性或与X染色体灭活模式

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Jytte Bieber Nielsen; Karen Friis Henriksen; Claus Hansen; Asli Silahtaroglu; Marianne Schwartz; Niels Tommerup;
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年度 2001
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1. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. [J] . Nielsen JB, Henriksen KF, Hansen C, European journal of human genetics: EJHG . 2001,第3期

机译：丹麦雷特综合征患者的MECP2突变：突变的频率很高，但与临床严重程度或X染色体失活模式没有一致的相关性。
2. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. [J] . Archer H, Evans J, Leonard H, Journal of Medical Genetics . 2007,第2期

机译：具有p.R168X或p.T158M MECP2突变的Rett综合征患者的临床严重程度与X染色体失活的方向和偏斜之间的相关性。
3. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. [J] . Xinhua Bao, Shengling Jiang, Fuying Song, Journal of child neurology . 2008,第1期

机译：Rett综合征的X染色体失活及其与MECP2突变和表型的相关性。
4. The long QT syndrome: a clinical counterpart of hERG mutations [C] . Peter J. Schwartz symposium on The hERG cardiac potassium channel: structure, function, and long QT syndrome . 2005

机译：长QT综合征：HERG突变的临床对应物
5. A study on two chromatin-related factors: Analysis of MeCP2 and mutations linked to Rett syndrome identification of co-factors for the insulator protein CTCF [D] . Yusufzai, Timur M. 2004

机译：两种与染色质相关的因子的研究：MeCP2分析和与Rett综合征相关的突变鉴定绝缘子蛋白CTCF的辅助因子
6. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X‐chromosome inactivation [O] . Hayley Archer, Julie Evans, Helen Leonard, 2007

机译：具有p.R168X或p.T158M MECP2突变的Rett综合征患者的临床严重程度与X染色体失活的方向和偏斜之间的相关性
7. Correlation between clinical severity in patients with Rett Syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation [O] . Archer, Hayley, Evans, Julie, Leonard, Helen, 2007

机译：具有p.R168X或p.T158M MECP2突变的Rett综合征患者的临床严重程度与X染色体失活的方向和偏斜之间的相关性

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

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