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

TÜRKYILMAZ, AYBERK; ALAVANDA, CEREN; Ates, Esra; GEÇKİNLİ, BİLGEN; Polat, Hamza; GÖKCÜ, MEHMET; Karakaya, Taner; ÇEBİ, ALPER; SÖYLEMEZ, MEHMET; GÜNEY, AHMET; Ata, Pinar; Arman, Ahmet

doi:10.1007/s10815-022-02408-0

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., ...Daha Fazla

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, cilt.39, sa.3, ss.695-710, 2022 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 39 Sayı: 3
Basım Tarihi: 2022
Doi Numarası: 10.1007/s10815-022-02408-0
Dergi Adı: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, ATLA Religion Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.695-710
Anahtar Kelimeler: SNP array, FIGNL1, Primary ovarian insufficiency, Whole-exome sequencing, ANTI-MULLERIAN HORMONE, CANDIDATE GENES, TURKISH WOMEN, FAILURE, CHROMOSOME, LEUKODYSTROPHY, ABNORMALITIES, GENERATION, PROTEIN, IDENTIFICATION
Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.