Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

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 …

[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis

L Valle, RM de Voer, Y Goldberg, W Sjursen… - Molecular aspects of …, 2019 - Elsevier
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

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 …

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 …

Meiosis interrupted: the genetics of female infertility via meiotic failure

L Biswas, K Tyc, W El Yakoubi, K Morgan… - …, 2021 - rep.bioscientifica.com
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …

Premature ovarian insufficiency

SM McGlacken-Byrne, GS Conway - Best Practice & Research Clinical …, 2022 - Elsevier
The natural lifespan of the ovary is occasionally interrupted by pathological processes; some
are known, but many are unknown. Premature ovarian insufficiency (POI) can be a …

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency

S Desai, M Wood-Trageser, J Matic… - The Journal of …, 2017 - academic.oup.com
Objective: To assess the frequency of variants, including biallelic pathogenic variants, in
minichromosome maintenance 8 (MCM8) and minichromosome maintenance 9 (MCM9) …

[HTML][HTML] Recent discoveries in the genetics of familial colorectal cancer and polyposis

L Valle - Clinical Gastroenterology and Hepatology, 2017 - Elsevier
The development of genome-wide massively parallel sequencing, ie, whole-genome and
whole-exome sequencing, and copy number approaches has raised high expectations for …

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 …