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

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage.

Reproductive biomedicine online - 1 Feb 2013

Molinari Emanuela, Mirabelli Marzia, Raimondo Stefania, Brussino Alessandro, Gennarelli Gianluca, Bongioanni Francesca, Revelli Alberto

Abstract excerpt

This paper reports a case of recurrent miscarriage in a patient affected by a variant phenotype of sperm macrocephaly syndrome (SMS). SMS is usually related to specific sperm characteristics (large head, multiple tail) and homozygous mutations in the aurora kinase C gene (AURKC). However, the present case observed large-headed spermatozoa with no flagellar abnormalities and no mutations detectable by AURKC...

Read the complete abstract on PubMed

Topics

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

Share to Abortion, Habitual
Share to Aurora Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Infertility, Male

Share to Microscopy, Electron, Transmission

Share to Protein Serine-Threonine Kinases

Share to Spermatozoa

Share to Syndrome

Source

Identifiers

PMID: 23273756
DOI: 10.1016/j.rbmo.2012.11.004

Genes

SMS
AURKC

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

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage.PMID 23273756Read ↗

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermiaSemantic proximity Read ↗

Successful intracytoplasmic sperm injection in a macrozoospermia case with novel compound heterozygous aurora kinase C (AURKC) mutations.Semantic proximity Read ↗

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermiaSemantic proximity Read ↗

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.Semantic proximity Read ↗

Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.Semantic proximity Read ↗

Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.Semantic proximity Read ↗

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermiaSemantic proximity Read ↗

Genetic aspects of monomorphic teratozoospermia: a review.Semantic proximity Read ↗

Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoaSemantic proximity Read ↗

Polyploidy in large-headed sperm: FISH study of three casesSemantic proximity Read ↗

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.Semantic proximity Read ↗

Reproductive Failure in Patients With Various Percentages of Macronuclear Spermatozoa: High Level of Aneuploid and Polyploid SpermatozoaSemantic proximity Read ↗

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