Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

PloS one - 1 Jan 2023

Quarantani Gioia, Sorgente Anna, Alfano Massimo, Pipitone Giovanni Battista, Boeri Luca, Pozzi Edoardo, Belladelli Federico, Pederzoli Filippo, Ferrara Anna Maria, Montorsi Francesco, Moles Anna, Carrera Paola, Salonia Andrea, Casari Giorgio

Abstract excerpt

Almost 40% of infertile men cases are classified as idiopathic when tested negative to the current diagnostic routine based on the screening of karyotype, Y chromosome microdeletions and CFTR mutations in men with azoospermia or oligozoospermia. Rare monogenic forms of infertility are not routinely evaluated. In this study we aim to investigate the unknown potential genetic causes in couples with pure male...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Azoospermia
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Share to Infertility, Male

Share to Mutation

Share to Oligospermia

Share to Sexual Differentiation and Disorders

Share to Sperm and Testicular Function

Source

Open in PubMed Open full text

Identifiers

PMID: 37540677
DOI: 10.1371/journal.pone.0288336
PMCID: PMC10403130

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.PMID 37540677Read ↗

Toward clinical exomes in diagnostics and management of male infertility.Semantic proximity Read ↗

The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Semantic proximity Read ↗

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertilitySemantic proximity Read ↗

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

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.Semantic proximity Read ↗

Genetic diversity of infertile males in India.Semantic proximity Read ↗

Genetic diversity of infertile males in IndiaSemantic proximity Read ↗

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

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.Semantic proximity Read ↗

Point-of-care whole-exome sequencing of idiopathic male infertility.Semantic proximity Read ↗

Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.Semantic proximity Read ↗

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.