维普期刊资源整合服务平台（V6.5）

维普中文期刊产品整合服务

4篇 您的检索式：作者名="Schepens I"

选中清除导出查看参考文献查看引证文献引用追踪共1页首页上一页第1页下一页末页 /1 跳转

		题名	作者	年代	出处	被引量
	1	Inhibition of the thioredoxin-dependent activation of the NADP-mahte dehydrogenase and cofactor specificity 显示文摘	Schepens I Johansson K Decottignies P	2000	J Biol Chem2000，275，20：	1
	2	PHYTO-CHROME KINASE SUBSTRATE 1 is a phototropin 1 binding protein required for phototropism显示文摘	Lariguet P Schepens I Hodgson D		0，，：	1
	3	Scleral buckling procedures,5:synthetic structures and sillicone implants显示文摘	Schepens C Okamura I Brockhurst R	1960	Arch Ophthalmol1960，64，：	1
	4	Prevalence of fragile X syndrome in males and females in Indonesia显示文摘AIM: To investigate the prevalence of fragile X syndrome(FXS) in intellectually disabled male and female Indonesians.METHODS: This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability(ID). In this previous study,87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. The testing was also conducted in the five previously identified samples to confirm the abnormality. In total, a molecular study was conducted in 445 samples(162 females and 283 males).RESULTS: In the cohort of Indonesian ID population, the prevalence of FXS is 9/527(1.7%). The prevalence in males and females is 1.5%(5/329) and 2%(4/198), respectively. Segregation analysis in the families and X-inactivation studies were performed. We performed the first comprehensive genetic survey of a representative sample of male and female ID individuals from institutions and special schools in Indonesia. Our findings show that a comprehensive study of FXS can be performed in a developing country like Indonesia where diagnostic facilities are limited.CONCLUSION: The prevalence of FXS is equal in females and males in our study, which suggests that the prevalence of FXS in females could be underestimated.	Farmaditya EP Mundhofir Tri I Winarni Willy Nillesen Bregje WM van Bon Marga Schepens Martina Ruiterkamp-Versteeg Ben CJ Hamel Helger G Yntema Sultana MH Faradz	2012	World Journal of Medical Genetics2012，2，3：	0

返回顶部每页显示：

共1页首页上一页第1页下一页末页 /1 跳转

goolge学术搜索-维普

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1　渝公网安备 50019002500403号　违法和不良信息举报中心

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费