检测干血斑样本DNA中基因拷贝数增加可有效筛查克兰费尔特综合征。 - Suppr

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

作者信息

Aksglaede L, Garn I D, Hollegaard M V, Hougaard D M, Rajpert-De Meyts E, Juul A

机构信息

Department of Growth and Reproduction, Faculty of Health Sciences, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

出版信息

Acta Paediatr. 2012 Dec;101(12):e561-3. doi: 10.1111/apa.12008. Epub 2012 Sep 15.

DOI:10.1111/apa.12008

PMID:22928958

Abstract

摘要

相似文献

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

Acta Paediatr. 2012 Dec;101(12):e561-3. doi: 10.1111/apa.12008. Epub 2012 Sep 15.

DNA methylome profiling using neonatal dried blood spot samples: a proof-of-principle study.

Mol Genet Metab. 2013 Apr;108(4):225-31. doi: 10.1016/j.ymgme.2013.01.016. Epub 2013 Feb 1.

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.

Mol Hum Reprod. 2007 Oct;13(10):745-50. doi: 10.1093/molehr/gam053. Epub 2007 Aug 24.

Cortisol assay in dried blood spots to reduce false positive rate in congenital adrenal hyperplasia screening.

Clin Chim Acta. 2012 Aug 16;413(15-16):1306-7. doi: 10.1016/j.cca.2012.04.022. Epub 2012 Apr 25.

Postnatal screening for Klinefelter syndrome: is there a rationale?

Acta Paediatr. 2011 Jun;100(6):923-33. doi: 10.1111/j.1651-2227.2011.02151.x. Epub 2011 Feb 3.

Differentiating inherited human herpesvirus type 6 genome from primary human herpesvirus type 6 infection by means of dried blood spot from the newborn screening card.

J Pediatr. 2011 Nov;159(5):859-61. doi: 10.1016/j.jpeds.2011.06.032. Epub 2011 Aug 15.

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study.

Asian J Androl. 2018 Jul-Aug;20(4):349-354. doi: 10.4103/aja.aja_15_18.

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Aug 15;903:142-9. doi: 10.1016/j.jchromb.2012.07.008. Epub 2012 Jul 20.

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.

Int J Cardiol. 2016 Oct 15;221:446-9. doi: 10.1016/j.ijcard.2016.06.287. Epub 2016 Jun 29.

Extraction of DNA from dried blood in the diagnosis of congenital CMV infection.

Methods Mol Biol. 2012;903:169-75. doi: 10.1007/978-1-61779-937-2_10.

引用本文的文献

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.

Front Endocrinol (Lausanne). 2023 May 5;14:1160884. doi: 10.3389/fendo.2023.1160884. eCollection 2023.

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.

Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.

Eur J Pediatr. 2016 Mar;175(3):399-404. doi: 10.1007/s00431-015-2657-7. Epub 2015 Oct 22.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

作者信息

Aksglaede L, Garn I D, Hollegaard M V, Hougaard D M, Rajpert-De Meyts E, Juul A

机构信息

Department of Growth and Reproduction, Faculty of Health Sciences, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

出版信息

Acta Paediatr. 2012 Dec;101(12):e561-3. doi: 10.1111/apa.12008. Epub 2012 Sep 15.

DOI:10.1111/apa.12008

PMID:22928958

Abstract

摘要

相似文献

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

Acta Paediatr. 2012 Dec;101(12):e561-3. doi: 10.1111/apa.12008. Epub 2012 Sep 15.

DNA methylome profiling using neonatal dried blood spot samples: a proof-of-principle study.

Mol Genet Metab. 2013 Apr;108(4):225-31. doi: 10.1016/j.ymgme.2013.01.016. Epub 2013 Feb 1.

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.

Mol Hum Reprod. 2007 Oct;13(10):745-50. doi: 10.1093/molehr/gam053. Epub 2007 Aug 24.

Cortisol assay in dried blood spots to reduce false positive rate in congenital adrenal hyperplasia screening.

Clin Chim Acta. 2012 Aug 16;413(15-16):1306-7. doi: 10.1016/j.cca.2012.04.022. Epub 2012 Apr 25.

Postnatal screening for Klinefelter syndrome: is there a rationale?

Acta Paediatr. 2011 Jun;100(6):923-33. doi: 10.1111/j.1651-2227.2011.02151.x. Epub 2011 Feb 3.

Differentiating inherited human herpesvirus type 6 genome from primary human herpesvirus type 6 infection by means of dried blood spot from the newborn screening card.

J Pediatr. 2011 Nov;159(5):859-61. doi: 10.1016/j.jpeds.2011.06.032. Epub 2011 Aug 15.

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study.

Asian J Androl. 2018 Jul-Aug;20(4):349-354. doi: 10.4103/aja.aja_15_18.

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Aug 15;903:142-9. doi: 10.1016/j.jchromb.2012.07.008. Epub 2012 Jul 20.

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.

Int J Cardiol. 2016 Oct 15;221:446-9. doi: 10.1016/j.ijcard.2016.06.287. Epub 2016 Jun 29.

Extraction of DNA from dried blood in the diagnosis of congenital CMV infection.

Methods Mol Biol. 2012;903:169-75. doi: 10.1007/978-1-61779-937-2_10.

引用本文的文献

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.

Front Endocrinol (Lausanne). 2023 May 5;14:1160884. doi: 10.3389/fendo.2023.1160884. eCollection 2023.

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.

Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.

Eur J Pediatr. 2016 Mar;175(3):399-404. doi: 10.1007/s00431-015-2657-7. Epub 2015 Oct 22.

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.

作者信息

机构信息

出版信息

相似文献

引用本文的文献