Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review

Y Wei, J Wang, R Qu, W Zhang, Y Tan… - Human …, 2024 - academic.oup.com
BACKGROUND Infertility and pregnancy loss are longstanding problems. Successful
fertilization and high-quality embryos are prerequisites for an ongoing pregnancy. Studies …

ESHRE good practice recommendations on recurrent implantation failure

ESHRE Working Group on Recurrent … - Human …, 2023 - academic.oup.com
STUDY QUESTION How should recurrent implantation failure (RIF) in patients undergoing
ART be defined and managed? SUMMARY ANSWER This is the first ESHRE good practice …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

The human periconceptional maternal-embryonic space in health and disease

I Moreno, A Capalbo, A Mas… - Physiological …, 2023 - journals.physiology.org
Pregnancy is established during the periconceptional period as a continuum beginning with
blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and …

Genetic factors of non-obstructive azoospermia: consequences on patients' and offspring health

C Krausz, F Cioppi - Journal of Clinical Medicine, 2021 - mdpi.com
Non-Obstructive Azoospermia (NOA) affects about 1% of men in the general population and
is characterized by clinical heterogeneity implying the involvement of several different …

Leave the past behind: women's reproductive history shows no association with blastocysts' euploidy and limited association with live birth rates after euploid embryo …

D Cimadomo, A Capalbo, L Dovere… - Human …, 2021 - academic.oup.com
STUDY QUESTION Is there an association between patients' reproductive history and the
mean euploidy rates per biopsied blastocysts (m-ER) or the live birth rates (LBRs) per first …

At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children

J Balciuniene, R Liu, L Bean, F Guo… - JAMA Network …, 2023 - jamanetwork.com
Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …

A systematic review and evidence assessment of monogenic gene–disease relationships in human female infertility and differences in sex development

A Van Der Kelen, Ö Okutman, E Javey… - Human …, 2023 - academic.oup.com
BACKGROUND As in other domains of medicine, high-throughput sequencing methods
have led to the identification of an ever-increasing number of gene variants in the fields of …

[HTML][HTML] Recent advances in understanding gonadotropin signaling

L Casarini, M Simoni - Faculty reviews, 2021 - ncbi.nlm.nih.gov
Gonadotropins are glycoprotein sex hormones regulating development and reproduction
and bind to specific G protein–coupled receptors expressed in the gonads. Their effects on …