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Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
TLDR
Strong evidence of associations between PCOS and three loci is identified and follow-up studies of the candidate genes in these regions are recommended, providing new insight into the pathogenesis of PCOS. Expand
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
TLDR
Eight new PCOS association signals are identified that show evidence of enrichment for candidate genes related to insulin signaling, sexual hormone function and type 2 diabetes (T2D) and other candidate genes were related to calcium signaling and endocytosis. Expand
NOBOX homeobox mutation causes premature ovarian failure.
TLDR
It is shown that NOBOX mutations can cause POF, and the missense mutation, p.Arg355His, disrupted NOBOX homeodomain binding to NOBOX DNA-binding element (NBE) and had a dominant negative effect on the binding of wild-type NOBOX to DNA. Expand
Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome.
TLDR
Among infertile women with the polycystic ovary syndrome, frozen-embryo transfer was associated with a higher rate of live birth, a lower risk of the ovarian hyperstimulation syndrome, and a higher risk of preeclampsia after the first transfer than was fresh-embyo transfer. Expand
Transcription factor FIGLA is mutated in patients with premature ovarian failure.
TLDR
These findings show that a subset of Chinese women with sporadic, premature ovarian failure harbor mutations in the oocyte-specific gene FIGLA, and that the p.140 delN mutation disrupted FIGLA binding to the TCF3 helix-loop-helix (HLH) domain. Expand
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
TLDR
Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function. Expand
Genetics of primary ovarian insufficiency: new developments and opportunities
TLDR
Given the slow progress in candidate-gene analysis and relatively small sample sizes available for GWAS, family-based whole exome and whole genome sequencing appear to be the most promising approaches for detecting potential genes responsible for POI. Expand
Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women.
TLDR
The findings have shown genuine heterogeneity, stratified on the basis of both clinical findings and genotypes, as significant metabolic disturbances may emerge later in life in PCOS patients of Han Chinese descent. Expand
Frozen versus fresh single blastocyst transfer in ovulatory women: a multicentre, randomised controlled trial
TLDR
Frozen single blastocyst transfer resulted in a higher singleton livebirth rate than did fresh single blastocryst transfer in ovulatory women with good prognosis, and the increased risk of pre-eclampsia after frozen blastocySt transfer warrants further studies. Expand
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