[HTML][HTML] Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling

F Barros, F Carvalho, A Barros, S Dória - Porto biomedical journal, 2020 - journals.lww.com
Premature ovarian insufficiency (POI) is a heterogeneous disorder diagnosed in women
before 40 years old and describes a wide range of impaired ovarian function, from …

[HTML][HTML] Selected genetic factors associated with primary ovarian insufficiency

M Chen, H Jiang, C Zhang - International Journal of Molecular Sciences, 2023 - mdpi.com
Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional
ovaries in women before the age of 40. It is characterized by primary amenorrhea or …

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency

J Zhang, XY Zhou, A Wang, YH Lai, XF Zhang… - Clinical …, 2023 - Wiley Online Library
Premature ovarian insufficiency (POI) is a clinical syndrome of ovarian dysfunction
characterized by cessation of menstruation occurring before the age of 40 years. The …

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

A Turkyilmaz, C Alavanda, EA Ates, BB Geckinli… - Journal of Assisted …, 2022 - Springer
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 …

[HTML][HTML] Epigenetic alterations in cryopreserved human spermatozoa: Suspected potential functional defects

W Wang, P Todorov, C Pei, M Wang, E Isachenko… - Cells, 2022 - mdpi.com
Background: Gene set enrichment analysis (GSEA) was conducted on raw data, and
alternative splicing (AS) events were found after mRNA sequencing of human spermatozoa …

Genetics of primary ovarian insufficiency

RO Akande, Y Ibrahim - Clinical Obstetrics and Gynecology, 2020 - journals.lww.com
The diagnosis of primary ovarian insufficiency (POI) has untold effects on women and a
better understanding alongside potential treatments are paramount to improve quality of life …

The emerging neurological spectrum of AARS2-associated disorders

SP Parra, SH Heckers, WR Wilcox, CD Mcknight… - Parkinsonism & related …, 2021 - Elsevier
Background The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase.
Defects in this gene have been linked with autosomal recessive inheritance of a variety of …

A decade of discovery: the stunning progress of premature ovarian insufficiency research in China

X Wang, ZJ Chen - Biology of Reproduction, 2022 - academic.oup.com
Premature ovarian insufficiency (POI) is one of the key aspects of ovarian infertility. Due to
early cession of ovarian function, POI imposes great challenges on the physiological and …

[HTML][HTML] Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

E Kazakova, JA Téllez-Martínez… - Frontiers in …, 2023 - frontiersin.org
Objectives To report the first Mexican case with two novel AARS2 mutations causing primary
ovarian failure, uterus infantilis, and early-onset dementia secondary to …

Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts

JL Simpson - Emery and Rimoin's Principles and Practice of Medical …, 2022 - Elsevier
Hypogonadotropic and hypergonadotropic forms of hypogonadism exist. In the
hypogonadotropic phenotype, functional etiology originates from GnRH neurons in the …