Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine

F Tüttelmann, C Ruckert, A Röpke - Medizinische Genetik, 2018 - degruyter.com
Infertility is a common condition estimated to affect 10–15% of couples. The clinical causes
are attributed in equal parts to the male and female partners. Diagnosing male infertility …

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 …

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

AN Yatsenko, AP Georgiadis, A Röpke… - … England Journal of …, 2015 - Mass Medical Soc
Background The genetic basis of nonobstructive azoospermia is unknown in the majority of
infertile men. Methods We performed array comparative genomic hybridization testing in …

Genetics of male infertility: from research to clinic

C Krausz, AR Escamilla, C Chianese - Reproduction, 2015 - rep.bioscientifica.com
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …

[HTML][HTML] Point-of-care whole-exome sequencing of idiopathic male infertility

KA Fakhro, H Elbardisi, M Arafa, A Robay… - Genetics in …, 2018 - Elsevier
Purpose Nonobstructive azoospermia (NOA) affects 1% of the male population; however,
despite state-of-the-art clinical assessment, for most patients the cause is unknown. We …

Disruption of circadian rhythms: a crucial factor in the etiology of infertility

F Sciarra, E Franceschini, F Campolo… - International journal of …, 2020 - mdpi.com
Infertility represents a growing health problem in industrialized countries. Thus, a greater
understanding of the molecular networks involved in this disease could be critical for the …

Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia

L Kasak, M Punab, L Nagirnaja, M Grigorova… - The American Journal of …, 2018 - cell.com
Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia
(NOA) is defined as the absence of spermatozoa in the ejaculate due to failed …

[HTML][HTML] A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

M Gershoni, R Hauser, L Yogev, O Lehavi, F Azem… - Genetics in …, 2017 - Elsevier
Purpose Up to 1% of all men experience azoospermia, a condition of complete absence of
sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly …

Genetic landscape of nonobstructive azoospermia and new perspectives for the clinic

M Cerván-Martín, JA Castilla… - Journal of clinical …, 2020 - mdpi.com
Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility,
involving around 1% of the male population and 10% of infertile men. This condition is …

Novel gene regulation in normal and abnormal spermatogenesis

L Du, W Chen, Z Cheng, S Wu, J He, L Han, Z He… - Cells, 2021 - mdpi.com
Spermatogenesis is a complex and dynamic process which is precisely controlledby genetic
and epigenetic factors. With the development of new technologies (eg, single-cell RNA …