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ALLELE-SPECIFIC METHYLATED MULTIPLEX REAL TIME QUANTITATIVE PCR (ASMM RTQ-PCR), A POWERFUL METHOD FOR DIAGNOSING LOSS OF IMPRINTING OF THE 11p15 REGION IN RUSSELL SILVER AND BECKWITH WIEDEMANN SYNDROMES

机译：等位基因特异性甲基化实时定量定量PCR（ASMM RTQ-PCR），一种有效的方法，可诊断罗素银和贝克维斯维德曼氏综合征中11p15区域的印染损失

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International audience

机译：国际观众

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作者
Azzi, Salah; Steunou, Virginie; Rousseau, Alexandra; Rossignol, Sylvie; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Marilyne; Gicquel, Christine; Le Bouc, Yves; Netchine, Irene;
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年度 2011
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专利

1. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. [J] . Azzi S, Steunou V, Rousseau A, Human mutation . 2011,第2期

机译：等位基因特异的甲基化多重实时定量PCR（ASMM RTQ-PCR），一种用于诊断Russell Silver和Beckwith Wiedemann综合征的11p15区域印记丢失的有效方法。
2. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes [J] . DemarsJ., GicquelC. Clinical Genetics: An International Journal of Genetics in Medicine . 2012,第4期

机译：Beckwith-Wiedemann和Silver-Russell综合征的印迹11p15区的表观遗传和遗传干扰
3. Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes. [J] . Demars J, Le Bouc Y, El Osta A, Current medicinal chemistry . 2011,第12期

机译：Silver-Russell和Beckwith-Wiedemann综合征的异常11p15基因印记的表观遗传和遗传机制。
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. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome [O] . Katja Eggermann, Jet Bliek, Frédéric Brioude, 2016

机译：EMQN分子遗传学测试和报告11p15号染色体印迹疾病的最佳实践指南：Silver-Russell和Beckwith-Wiedemann综合征
6. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. [O] . Demars, Julie, Rossignol, Sylvie, Netchine, Irène, 2011

机译：Beckwith-Wiedemann和Silver-Russell综合征发病机理的新见解：小拷贝数变异对11p15印迹缺陷的贡献。

ALLELE-SPECIFIC METHYLATED MULTIPLEX REAL TIME QUANTITATIVE PCR (ASMM RTQ-PCR), A POWERFUL METHOD FOR DIAGNOSING LOSS OF IMPRINTING OF THE 11p15 REGION IN RUSSELL SILVER AND BECKWITH WIEDEMANN SYNDROMES

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