Article

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

2021-05-04

Abstract excerpt

<h4>Background</h4> Human male infertility has a notable genetic component, including well established diagnoses like Klinefelter syndrome, Y-chromosome microdeletions, and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a vast majority (60-70%) remain without a clear diagnosis and are classified as unexplained. This is likely in large part due to a delay in the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 79f45cb2-294b-592d-a066-496d9ecb1285
DOI: 10.1101/2021.05.01.21256465

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationshipsDOI 10.1101/2021.05.01.21256465Read

A systematic review and standardized clinical validity assessment of male infertility genesSemantic proximity Read

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.Semantic proximity Read

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male InfertilitySemantic proximity Read

Genetics of Male Infertility – Present and FutureSemantic proximity Read

The genetic basis of male and female infertilitySemantic proximity Read

Improved phenotypic classification of male infertility to promote discovery of genetic causes.Semantic proximity Read

IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility.Semantic proximity Read

Contemporary genetics-based diagnostics of male infertilitySemantic proximity Read

The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Semantic proximity Read

The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility.Semantic proximity Read

Towards a Multi-Omics of Male InfertilitySemantic proximity Read

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART).Semantic proximity Read