This study establishes the first clinical association between CCNA1 mutations and chromatid non-disjunction in human spermatogenesis, highlighting the limitations of current morphology-based diagnostic thresholds and supports cytogenetic and genomic assessment for severe teratozoospermia (especially head abnormalities)...
A. Perrin, Frédéric Morel, Zeinab Wehbe et al.· Andrology· 0 citations
This work collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam and revealed significant phenotypic heterogeneity while highlighting strong genotype-phenot...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al.· Clinical Genetics· 0 citations
Findings identify LRGUK as a novel gene involved in male infertility, essential for spermatid morphogenesis and flagellum assembly, essential for spermatid morphogenesis and flagellum assembly.
Wiâme Mokkedem, Zeinab Wehbe, A. Barbotin et al.· Clinical Genetics· 0 citations
NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.
Nathalie Vanden Eynde, L. Hérissant, E. Landais et al.· Clinical Genetics· 0 citations
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