Associated Papers
Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.
Zidoune H et al.
Molecular Biology Reports, 2025
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.
Veitia RA et al.
Human Reproduction (oxford, England), 2025
40246288 (PubMed )
Supplement: deaf058_supplementary_table_s2.docx
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
Van Der Kelen A et al.
Journal of Assisted Reproduction and Genetics, 2025
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
Sassi A et al.
Molecular Genetics & Genomic Medicine, 2021
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
França MM et al.
Endocrine, 2017
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Ferrari I et al.
Human Molecular Genetics, 2016
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