Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Successful intracytoplasmic sperm injection in a macrozoospermia case with novel compound heterozygous aurora kinase C (AURKC) mutations.
Jiang L et al.
Archives of Gynecology and Obstetrics, 2024
Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia.
Redouane S et al.
Journal of Biomolecular Structure & Dynamics, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing.
Lledo B et al.
Journal of Assisted Reproduction and Genetics, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Colin E et al.
Frontiers in Cell and Developmental Biology, 2023
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.
Okutman O et al.
Genes, 2021
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A et al.
Human Reproduction Update, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
Hamza L et al.
Andrologia, 2020
Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.
Bai S et al.
Andrologia, 2020
Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.
Hua J et al.
Journal of Assisted Reproduction and Genetics, 2019
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C et al.
Expert Review of Molecular Diagnostics, 2018
Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.
Fellmeth JE et al.
Human Molecular Genetics, 2016
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Ghédir H et al.
Journal of Assisted Reproduction and Genetics, 2015
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.
Chianese C et al.
Andrology, 2015
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Ben Khelifa M et al.
Human Reproduction (oxford, England), 2012
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
Ounis L et al.
Asian Journal of Andrology, 0
Teratozoospermia: spotlight on the main genetic actors in the human.
Coutton C et al.
Human Reproduction Update, 0
Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review.
Ortega V et al.
Revista Internacional De Andrologia, 0