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3篇 您的检索式：作者名="Ali Shamsa"

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		题名	作者	年代	出处	被引量
	1	Saxagliptin overview: special focus on safety and adverse effects显示文摘	Shamsa Ali Vivian Fonseca	2013	Expert Opinion on Drug Safety2013，，1：	1
	2	Effect of acupuncture on azoospermic male显示文摘	Farnoosh Bidouee Ali Shamsa Mohsen Jalali	2011	Saudi J Kidney Dis Transpl2011，22，5：	1
	3	CFTR mutations causing congenital unilateral absence of the vas deferens(CUAVD)and congenital absence of the uterus(CAU)in a consanguineous family显示文摘Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary disease.Mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene are considered the main genetic cause for CF.In this study,we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens(CUAVD),and one female patient diagnosed with congenital absence of the uterus(CAU).Testicular biopsy of one patient was performed,and hematoxylin and eosin(H and E)staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids,indicating obstructive azoospermia.To explore the underlying genetic factor in this familial disorder,we therefore performed whole-exome sequencing(WES)on all available family members.WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients(two CUAVD patients carried p.H949Y and p.L997F,and one CUAVD and the female CAU patient carried p.H949Y and p.I148T).All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing.Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.	Mahdieh Daliri Ghouchanatigh Ranjha Khan Majid Mojarrad Uzma Hameed Muhammad Zubair Ahmed Waqas Mohsen Jalali Mahmoudreza Kalantari Ali Shamsa Huan Zhang Qing-Hua Shi	2022	Asian Journal of Andrology2022，24，4：	0

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