Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
作者信息
Jorgez Carolina J, Weedin John W, Sahin Aysegul, Tannour-Louet Mounia, Han Shuo, Bournat Juan C, Mielnik Anna, Cheung Sau Wai, Nangia Ajay, Schlegel Peter N, Lipshultz Larry I, Lamb Dolores J
机构信息
Center for Reproductive Medicine, Houston, TX, USA.
出版信息
Hum Reprod. 2014 May;29(5):1113-4. doi: 10.1093/humrep/deu038. Epub 2014 Mar 14.
Abstract
摘要
相似文献
1
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.Y染色体微缺失与SHOX单倍剂量不足无关。
Hum Reprod. 2014 May;29(5):1113-4. doi: 10.1093/humrep/deu038. Epub 2014 Mar 14.
2
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.Y 染色体微缺失与 SHOX 单倍体不足无关。
Hum Reprod. 2013 Nov;28(11):3155-60. doi: 10.1093/humrep/det322. Epub 2013 Sep 5.
3
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.回复：Y染色体微缺失与SHOX单倍剂量不足无关。
Hum Reprod. 2014 May;29(5):1114-5. doi: 10.1093/humrep/deu037. Epub 2014 Mar 14.
4
Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.生长激素治疗矮小同源盒基因（SHOX）缺乏症患者。
J Endocrinol Invest. 2010 Jun;33(6 Suppl):34-8.
5
Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.易位（Y；22）导致SHOX缺失及孤立性身材矮小。
Am J Med Genet A. 2004 Mar 1;125A(2):186-90. doi: 10.1002/ajmg.a.20346.
6
A short history of the initial discovery of the SHOX gene.SHOX 基因最初发现的简史。
J Endocrinol Invest. 2010 Jun;33(6 Suppl):3-6.
7
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.在一个特发性矮小症的家族中发现了第一个包含 SHOX 增强子上游的 PAR1 缺失。
Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.
8
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.不育男性 Y 染色体微缺失中发现的假常染色体区域 (PAR) 异常。
J Clin Endocrinol Metab. 2011 Apr;96(4):E674-9. doi: 10.1210/jc.2010-2018. Epub 2011 Jan 20.
9
The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).SHOX基因与身材矮小。SHOX单倍剂量不足所致身材矮小的诊断与治疗圆桌会议：遗传学、放射学和人体测量学如何在诊断过程中帮助儿科医生 帕多瓦（2011年4月20日）
Pediatr Endocrinol Rev. 2012 Aug;9(4):727-33.
10
Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency.病例报告：一名患有SHOX单倍剂量不足的45,X男性的长期随访
J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):937-41. doi: 10.1515/jpem-2014-0388.
引用本文的文献
1
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.非梗阻性无精子症男性中E2F转录因子-1的基因组和遗传变异
Fertil Steril. 2015 Jan;103(1):44-52.e1. doi: 10.1016/j.fertnstert.2014.09.021. Epub 2014 Oct 24.
本文引用的文献
1
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.Y 染色体微缺失与 SHOX 单倍体不足无关。
Hum Reprod. 2013 Nov;28(11):3155-60. doi: 10.1093/humrep/det322. Epub 2013 Sep 5.
2
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.不育男性 Y 染色体微缺失中发现的假常染色体区域 (PAR) 异常。
J Clin Endocrinol Metab. 2011 Apr;96(4):E674-9. doi: 10.1210/jc.2010-2018. Epub 2011 Jan 20.
3
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.等臂双着丝粒Y染色体和性疾病是维持回文序列的同源重组的副产物。
Cell. 2009 Sep 4;138(5):855-69. doi: 10.1016/j.cell.2009.07.042.
Zotero 插件