A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-020-01995-0
Abstract: Purpose To identify disease-causing genes involved in female infertility. Methods Whole-exome sequencing and Sanger DNA sequencing were used to identify the mutations in disease-causing genes. We performed subcellular protein localization, western immunoblotting analysis, and co-immunoprecipitation… read more here.
Keywords: follicle syndrome; novel mutation; zp3; female infertility ... See more keywords
A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02136-x
Abstract: To identify a pathogenic gene mutation in a female infertility proband characterized by empty follicle syndrome (EFS) and explore the genetic cause of EFS. Whole exome sequencing (WES) was performed to identify the candidate pathogenic… read more here.
Keywords: zp1; empty follicle; mutation; zona pellucida ... See more keywords
Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.
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DOI: 10.1093/humrep/dey215
Abstract: Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful aspiration. To date, only two EFS… read more here.
Keywords: novel homozygous; follicle syndrome; follicle; disorder sex ... See more keywords
Empty follicle syndrome: Frequency and probable causes in Pakistani Population.
Sign Up to like & getrecommendations! Published in 2020 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.5455/jpma.18623
Abstract: OBJECTIVE To determine the frequency of empty follicle syndrome in in-vitro fertilization-stimulated cycles and to evaluate the causes associated with this phenomenon. METHODS The retrospective study was conducted at the Baqai Institute of Reproduction and… read more here.
Keywords: follicle syndrome; frequency probable; follicle; syndrome frequency ... See more keywords