Genetics of ovarian insufficiency and defects of folliculogenesis

MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Genetics of primary ovarian insufficiency

R Rossetti, I Ferrari, M Bonomi, L Persani - Clinical genetics, 2017 - Wiley Online Library
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …

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 …

Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency

I Huhtaniemi, O Hovatta, A La Marca, G Livera… - Trends in Endocrinology …, 2018 - cell.com
Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …

Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency

J Bouilly, I Beau, S Barraud, V Bernard… - The Journal of …, 2016 - academic.oup.com
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …

[HTML][HTML] Primary ovarian insufficiency, meiosis and DNA repair

RA Veitia - Biomedical journal, 2020 - Elsevier
Premature ovarian insufficiency (POI) is a major cause of female infertility. It is a
heterogeneous disease that affects about 1% of women under 40 years of age. POI may be …

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

LC Patiño, I Beau, C Carlosama, JC Buitrago… - Human …, 2017 - academic.oup.com
STUDY QUESTION Is it possible to identify new mutations potentially associated with non-
syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES) …

Genetics of primary ovarian insufficiency: new developments and opportunities

Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

[HTML][HTML] An update on primary ovarian insufficiency

M Jin, YQ Yu, HF Huang - Science China Life Sciences, 2012 - Springer
Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of
40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and …