New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
iatrogenic and environmental factor, viral infections, chronic disease as well as genetic …