Angelman's syndrome, abnormality of 15q11-13, and imprinting.
作者信息
Hall J G
出版信息
J Med Genet. 1990 Feb;27(2):141. doi: 10.1136/jmg.27.2.141.
Abstract
摘要
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Recurrence risk in the Angelman ("happy puppet") syndrome.安吉尔曼综合征（“快乐木偶”综合征）的复发风险
Am J Med Genet. 1987 Aug;27(4):773-80. doi: 10.1002/ajmg.1320270405.
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Am J Hum Genet. 1988 Nov;43(5):605-11.
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.与米勒-迪克尔综合征相关的微观和亚微观缺失的分子检测。
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Review and hypotheses: somatic mosaicism: observations related to clinical genetics.综述与假说：体细胞镶嵌现象：与临床遗传学相关的观察
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Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea.基因组印记：亨廷顿舞蹈病中亲代起源效应的一种可能机制。
J Med Genet. 1988 Dec;25(12):805-8. doi: 10.1136/jmg.25.12.805.
6
The association of Angelman's syndrome with deletions within 15q11-13.安吉尔曼综合征与15q11 - 13区域内缺失的关联。
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7
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.米勒-迪克尔综合征患者17p13带亚显微缺失的检测
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Angelman's syndrome and 15q11-13 deletions.安吉尔曼综合征与15q11 - 13缺失
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Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.用于研究普拉德-威利综合征染色体异常的DNA探针的定量校准及应用
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