[1]唐炳强,耿红全,林厚维,等.隐睾及隐睾合并其他泌尿生殖系统畸形的外显子测序分析[J].临床小儿外科杂志,2020,19(01):45-49.[doi:10.3969/j.issn.1671-6353.2020.01.009]
 Tang Bingqiang,Geng Hongquan,Lin Houwei,et al.Exon sequencing of cryptorchidism and other associated urogenital malformations[J].Journal of Clinical Pediatric Surgery,2020,19(01):45-49.[doi:10.3969/j.issn.1671-6353.2020.01.009]
点击复制

隐睾及隐睾合并其他泌尿生殖系统畸形的外显子测序分析

参考文献/References:

1 Chul Kim S,Kyoung Kwon S,Pyo Hong Y.Trends in the incidence of cryptorchidism and hypospadias of registry-based data in Korea:a comparison between industrialized areas of petrochemical estates and a non-industrialized area[J].Asian J Androl,2011,13(5):715-718.DOI:10.1038/aja.2010.53.
2 Hack WW,Meijer RW,Bos SD,et al.A new clinical classification for undescended testis[J].Scand J Urol Nephrol,2003,37(1):43-47.DOI:10.1080/00365590310008686.
3 Virtanen HE,Bjerknes R,Cortes D,et al.Cryptorchidism:classification,prevalence and long-term consequences[J].Acta Paediatr,2007,96(5):611-616.DOI:10.1111/j.1651-2227.2007.00241.x.
4 Foresta C,Zuccarello D,Garolla A,et al.Role of hormones,genes,and environment in human cryptorchidism[J].Endocr Rev,2008,29(5):560-580.DOI:10.1210/er.2007-0042.
5 Dixon-Salazar TJ,Silhavy JL,Udpa N,et al.Exome sequencing can improve diagnosis and alter patient management[J].Sci Transl Med,2012,4(138):138ra78.DOI:10.1126/scitranslmed.3003544.
6 Kurpisz M,Havryluk A,Nakonechnyj A,et al.Cryptorchidism and long-term consequences[J].Reprod Biol,2010,10(1):19-35.
7 Kojima Y,Mizuno K,Kohri K,et al.Advances in molecular genetics of cryptorchidism[J].Urology,2009,74(3):571-578.DOI:10.1016/j.urology.2009.04.037.
8 Lyon MF,Hawkes SG.X-linked gene for testicular feminization in the mouse[J].Nature,1970,227(5264):1217-1219.DOI:10.1038/2271217a0.
9 Radpour R,Falah M,Aslani A,et al.Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome[J].J Androl,2009,30(3):230-232.DOI:10.2164/jandrol.108.005520.
10 El-Khairi R,Martinez-Aguayo A,Ferraz-de-Souza B,et al.Role of DAX-1(NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function[J].Endocr Dev,2011,20:38-46.DOI:10.1159/000321213.
11 Ropke A,Tewes AC,Gromoll J,et al.Comprehensive sequence analysis of theNR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males[J].Eur J Hum Genet,2013,21(9):1012-1015.DOI:10.1038/ejhg.2012.290.
12 Lourenco D,Brauner R,Lin L,et al.Mutations inNR5A1 associated with ovarian insufficiency[J].N Engl J Med,2009,360(12):1200-1210.DOI:10.1056/NEJMoa0806228.
13 Tantawy S,Lin L,Akkurt I,et al.Testosterone production during puberty in two 46,XY patients with disorders of sex development and novelNR5A1 (SF-1) mutations[J].Eur J Endocrinol,2012,167(1):125-130.DOI:10.1530/eje-11-0944.
14 Gibbons RJ,Higgs DR.Molecular-clinical spectrum of the ATR-X syndrome[J].Am J Med Genet,2000,97(3):204-212.DOI:10.1002/1096-8628(200023)97:3<204:aid-ajmg1038>3.0.co;2-x.

相似文献/References:

[1]李乐 席红卫 王计文 罗添华. 脾性腺融合的临床特征及诊治方法[J].临床小儿外科杂志,2012,11(04):282.
 [J].Journal of Clinical Pediatric Surgery,2012,11(01):282.
[2]马慧 王军 李爽. 小儿隐睾扭转的诊治体会[J].临床小儿外科杂志,2014,13(04):309.
[3]钟海军 王翔 张斌. 经阴囊单切口睾丸下降固定术治疗低位隐睾的临床研究[J].临床小儿外科杂志,2014,13(06):513.
[4]何蓉 赵海腾 孙杰. 腹腔镜手术与开放手术诊治超声未探及睾丸的对比研究[J].临床小儿外科杂志,2015,14(05):380.

备注/Memo

收稿日期:2019-01-14。
基金项目:国家自然科学基金项目(编号:81770702)
通讯作者:耿红全,Email:ghongquan@hotmail.com

更新日期/Last Update: 1900-01-01