Yue Qiu Tan
Affiliation: Central South University
He W, Du J, Yang X, Li W, TANG W, Dai C, et al
. Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome. Reprod Biomed Online. 2018;: pubmed publisher
..The first FSHR frameshift mutation is reported here, and the first missense mutation in the signal peptide-encoding region of FSHR to be associated with POI. Women affected by ROS should consider undergoing mutation screening for FSHR. ..
Li X, Ouyang Y, Yi Y, Tan Y, Lu G. Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer. J Assist Reprod Genet. 2017;34:43-50 pubmed publisher
..In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality. Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET. ..
Yuan S, Meng L, Zhang Y, Tu C, Du J, Li W, et al
. Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias. Steroids. 2017;125:61-66 pubmed publisher
..Our study expanded the SRD5A2 mutation spectrum in the Han Chinese population and provided useful information for genetic and reproductive counselling for patients with hypospadias. ..
Meng L, Du J, Li W, Lu G, Tan Y. [Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:504-508 pubmed publisher
..1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS. ..
Cao W, Zhang Y, Zhong C, Lu G, Tan Y. [Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:698-702 pubmed publisher
..Target region sequencing is an effective and efficient method for genetic testing. The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene probably underlies the Bethlem myopathy with autosomal dominant inheritance. ..
Yuan S, Zhong C, Li X, Du J, Li W, Lu G, et al
. [Karyotyping and analysis of 5? -reductase-2 gene mutation in 25 patients with hypospadias]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:159-163 pubmed publisher
..Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting. ..
Li W, He W, Zhou L, Hu X, Li S, Gong F, et al
. [Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:196-199 pubmed publisher
..Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction. ..
Yang X, Li W, Du J, Yuan S, He W, Zhang Q, et al
. [Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:342-346 pubmed publisher
..Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene. ..