Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
第一作者:
Valeria,Romanelli
第一单位:
INGEMM, Instituto de Genética Médica y Molecular, IDIPaz, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.
作者:
主题词
Beckwith-Wiedemann综合征(Beckwith-Wiedemann Syndrome);染色体断裂点(Chromosome Breakpoints);染色体图(Chromosome Mapping);染色体, 人, 11对(Chromosomes, Human, Pair 11);DNA甲基化(DNA Methylation);表观基因组学(Epigenomics);基因组印迹(Genomic Imprinting);人类(Humans);胰岛素样生长因子Ⅱ(Insulin-Like Growth Factor II);微卫星重复(Microsatellite Repeats);镶嵌现象(Mosaicism);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);表型(Phenotype);序列分析, DNA(Sequence Analysis, DNA);单亲二体性(Uniparental Disomy)
DOI
10.1038/ejhg.2010.236
PMID
21248736
发布时间
2021-10-20
- 浏览22
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文