New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing

S Jaillard, K Bell, L Akloul, K Walton, K McElreavy… - Maturitas, 2020 - Elsevier
Ovarian deficiency, including premature ovarian insufficiency (POI) and diminished ovarian
reserve (DOR), represents one of the main causes of female infertility. POI is a genetically …

Next generation sequencing should be proposed to every woman with “idiopathic” primary ovarian insufficiency

S Eskenazi, A Bachelot, J Hugon-Rodin… - Journal of the …, 2021 - academic.oup.com
Context Primary ovarian insufficiency (POI) affects 1% of women under 40 years of age. POI
is idiopathic in more than 70% of cases. Though many candidate genes have been …

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

H Liu, X Wei, Y Sha, W Liu, H Gao, J Lin, Y Li… - Journal of ovarian …, 2020 - Springer
Background The loss of ovarian function in women, referred to as premature ovarian
insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically …

Genetics of primary ovarian insufficiency in the next-generation sequencing era

MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …

Primary ovarian insufficiency

JSE Laven - Seminars in reproductive medicine, 2016 - thieme-connect.com
Primary ovarian insufficiency (POI), also known as premature ovarian failure or premature
menopause, is defined as cessation of menstruation before the expected age of …

The genetics of premature ovarian failure: current perspectives

C Chapman, L Cree, AN Shelling - International journal of women's …, 2015 - Taylor & Francis
Premature ovarian failure (POF) is a common cause of infertility in women, characterized by
amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age …

Landscape of pathogenic mutations in premature ovarian insufficiency

H Ke, S Tang, T Guo, D Hou, X Jiao, S Li, W Luo… - Nature Medicine, 2023 - nature.com
Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of
ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To …

Molecular genetics of premature ovarian insufficiency

X Jiao, H Ke, Y Qin, ZJ Chen - Trends in Endocrinology & Metabolism, 2018 - cell.com
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet
identifying causative genes has been challenging with candidate gene approaches. Recent …

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

B Chen, L Li, J Wang, T Li, H Pan, B Liu, Y Zhou… - Journal of ovarian …, 2018 - Springer
Background To dissect the genetic alteration in two sisters with premature ovarian
insufficiency (POI) from a consanguineous family. Methods Whole-exome sequencing …

[HTML][HTML] The genetics of non-syndromic primary ovarian insufficiency: a systematic review

R Venturella, V De Vivo, A Carlea… - … Journal of Fertility & …, 2019 - ncbi.nlm.nih.gov
Several causes for primary ovarian insufficiency (POI) have been described, including
iatrogenic and environmental factor, viral infections, chronic disease as well as genetic …