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

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.

Reproductive biomedicine online - 1 Aug 2022

López-Rodrigo Olga, Bossini-Castillo Lara, Carmona F David, Bassas Lluís, Larriba Sara

Abstract excerpt

RESEARCH QUESTION: Would the use of genome-wide genotyping be an advantageous strategy to identify the molecular aetiology of two brothers from a non-consanguineous family, clinically diagnosed with total globozoospermia? DESIGN: Two related Spanish globozoospermic patients were studied. Eight first- and second-degree family members were also included in the study. The clinical procedure included anamnesis,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infertility, Male

Share to Membrane Proteins

Share to Spermatozoa

Source

Identifiers

PMID: 35610156
DOI: 10.1016/j.rbmo.2022.03.035

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.PMID 35610156Read ↗

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.Semantic proximity Read ↗

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.Semantic proximity Read ↗

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertilitySemantic proximity Read ↗

Novel DPY19L2 mutation locus causes globozoospermiaSemantic proximity Read ↗

DPY19L2 Deletion as a Major Cause of GlobozoospermiaSemantic proximity Read ↗

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.Semantic proximity Read ↗

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermiaSemantic proximity Read ↗

[Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia].Semantic proximity Read ↗

Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.Semantic proximity Read ↗

[Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].Semantic proximity Read ↗

[Mutation analysis and treatment of a case with globozoospermia].Semantic proximity Read ↗

Proteomic Analysis of Dpy19l2‐Deficient Human Globozoospermia Reveals Multiple Molecular DefectsSemantic proximity Read ↗

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