Detection of Y mosaicism in patients with Turner's syndrome.
作者信息
Chu C E, Connor J M, Donaldson M D, Kelnar C J, Smail P J, Greene S A
出版信息
J Med Genet. 1995 Jul;32(7):578-80. doi: 10.1136/jmg.32.7.578.
Abstract
摘要
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An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.一种改良的、非同位素方法，用于筛查性分化异常患者细胞的Y染色体DNA含量。
J Med Genet. 1993 Apr;30(4):304-7. doi: 10.1136/jmg.30.4.304.
2
Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA.通过对扩增DNA进行Southern印迹分析检测特纳综合征中的Y染色体序列。
Lancet. 1993 Jul 17;342(8864):140-3. doi: 10.1016/0140-6736(93)91345-m.
3
Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation.
Lancet. 1994 Jan 22;343(8891):240. doi: 10.1016/s0140-6736(94)91028-6.
4
Possible role of imprinting in the Turner phenotype.印记在特纳综合征表型中的可能作用。
J Med Genet. 1994 Nov;31(11):840-2. doi: 10.1136/jmg.31.11.840.
5
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.与特纳综合征相关的染色体基因型分布：活产患病率以及与结构性X异常或嵌合体相关的基因型中胎儿死亡率降低和严重程度减轻的证据。
Hum Genet. 1983;64(1):24-7. doi: 10.1007/BF00289473.
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On the nature and extent of XY pairing at meiotic prophase in man.关于人类减数分裂前期XY配对的性质和程度。
Cytogenet Cell Genet. 1984;38(4):241-7. doi: 10.1159/000132070.
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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.一种通过分析扩增的DNA序列进行遗传性疾病产前诊断的改进方法。应用于甲型血友病。
N Engl J Med. 1987 Oct 15;317(16):985-90. doi: 10.1056/NEJM198710153171603.
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Abnormal sexual differentiation and neoplasia.
Cancer Genet Cytogenet. 1987 Apr;25(2):191-218. doi: 10.1016/0165-4608(87)90180-4.
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Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads.
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Y chromosome mosaicism in 45,X Turner syndrome.45,X特纳综合征中的Y染色体嵌合现象。
Am J Med Genet. 1989 Oct;34(2):294-6. doi: 10.1002/ajmg.1320340235.
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