[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 …
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 …
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 …
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 …
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
Background: Gene set enrichment analysis (GSEA) was conducted on raw data, and
alternative splicing (AS) events were found after mRNA sequencing of human spermatozoa …
alternative splicing (AS) events were found after mRNA sequencing of human spermatozoa …
Genetics of primary ovarian insufficiency
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 …
better understanding alongside potential treatments are paramount to improve quality of life …
The emerging neurological spectrum of AARS2-associated disorders
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 …
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
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 …
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 …
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 …
hypogonadotropic phenotype, functional etiology originates from GnRH neurons in the …