Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency


TÜRKYILMAZ A., ALAVANDA C., Ates E. A. , GEÇKİNLİ B. B. , Polat H., GÖKCÜ M., ...More

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, vol.39, pp.695-710, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39
  • Publication Date: 2022
  • Doi Number: 10.1007/s10815-022-02408-0
  • Journal Name: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, ATLA Religion Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.695-710
  • Keywords: SNP array, FIGNL1, Primary ovarian insufficiency, Whole-exome sequencing, ANTI-MULLERIAN HORMONE, CANDIDATE GENES, TURKISH WOMEN, FAILURE, CHROMOSOME, LEUKODYSTROPHY, ABNORMALITIES, GENERATION, PROTEIN, IDENTIFICATION
  • Marmara University Affiliated: Yes

Abstract

Purpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients.