High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome.
作者信息
Butler M G
出版信息
Am J Med Genet. 1995 May 8;56(4):420-2. doi: 10.1002/ajmg.1320560414.
Abstract
摘要
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High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome.对因普拉德-威利综合征或安吉尔曼综合征前来就诊的患者进行高分辨率染色体分析和荧光原位杂交。
Am J Med Genet. 1995 May 8;56(4):420-2. doi: 10.1002/ajmg.1320560414.
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Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.高分辨率细胞遗传学、荧光原位杂交及DNA研究在普拉德-威利综合征和安吉尔曼综合征诊断验证中的比较
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Genetic testing for Prader-Willi and Angelman syndromes.普拉德-威利综合征和安吉尔曼综合征的基因检测。
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Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.基于甲基化特异性聚合酶链反应的普拉德-威利综合征和安吉尔曼综合征的转诊诊断
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Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.诊断检测：普拉德-威利综合征和天使综合征的成本分析
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[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].普拉德-威利综合征和安吉尔曼综合征的遗传基础：对生物学诊断的意义
Arch Pediatr. 1998 Apr;5(4):418-24. doi: 10.1016/s0929-693x(98)80031-6.
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Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.使用两种荧光原位杂交（FISH）探针可提供一种经济高效、简单的方案，用于在疑似普拉德-威利综合征和安吉尔曼综合征的常规实验室检测中排除印记中心缺陷。
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Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.通过传统和分子细胞遗传学对普拉德-威利/安吉尔曼综合征区域15号染色体异常进行产前诊断。
Am J Med Genet. 1995 Feb 13;55(4):444-52. doi: 10.1002/ajmg.1320550411.
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Prader-Willi syndrome: A primer for clinicians.普拉德-威利综合征：临床医生指南
Int J Pediatr Endocrinol. 2011 Oct 18;2011(1):12. doi: 10.1186/1687-9856-2011-12.
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Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.天使综合征：病因、临床特征、诊断及症状管理
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Growth hormone secretion in Prader-Willi syndrome.普拉德-威利综合征中的生长激素分泌
J Endocrinol Invest. 1998 Jul-Aug;21(7):418-22. doi: 10.1007/BF03347319.
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Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).使用YAC克隆273A2（D15S10），对77名疑似患有普拉德-威利综合征或天使综合征的患者进行荧光原位杂交（FISH）微缺失常规筛查。
Hum Genet. 1996 Jun;97(6):784-93. doi: 10.1007/BF02346190.
本文引用的文献
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Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?特定的短臂变异或异态性在天使综合征或普拉德-威利综合征患者的15号染色体缺失中是否过度存在？
Am J Med Genet. 1994 Mar 1;50(1):42-5. doi: 10.1002/ajmg.1320500109.
2
Cytogenetic and molecular analysis in Angelman syndrome.天使综合征的细胞遗传学和分子分析。
Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104.
3
Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.用于普拉德-威利综合征和安吉尔曼综合征实验室评估的高分辨率染色体显带与荧光原位杂交（FISH）的比较。
Am J Med Genet. 1994 Aug 1;52(1):85-91. doi: 10.1002/ajmg.1320520117.
4
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
Am J Med Genet. 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307.
5
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.非缺失型普拉德-威利综合征中母源二体性提示的基因印记
Nature. 1989 Nov 16;342(6247):281-5. doi: 10.1038/342281a0.
6
Prader-Willi syndrome: current understanding of cause and diagnosis.普拉德-威利综合征：对病因和诊断的当前认识
Am J Med Genet. 1990 Mar;35(3):319-32. doi: 10.1002/ajmg.1320350306.
7
Molecular cytogenetics of Prader-Willi and Angelman syndromes.普拉德-威利综合征和安吉尔曼综合征的分子细胞遗传学
Lancet. 1991 Nov 16;338(8777):1276. doi: 10.1016/0140-6736(91)92145-r.
8
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.普拉德-威利综合征中单亲二体的频率。对分子诊断的意义。
N Engl J Med. 1992 Jun 11;326(24):1599-607. doi: 10.1056/NEJM199206113262404.
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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.小核核糖核蛋白多肽N（SNRPN），普拉德-威利综合征关键区域中的一个表达基因。
Nat Genet. 1992 Dec;2(4):265-9. doi: 10.1038/ng1292-265.
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