Associated Papers
Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.
Zidoune H et al.
Molecular Biology Reports, 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
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
Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.
Wu J et al.
Biology of Sex Differences, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Jordan P et al.
Journal of Assisted Reproduction and Genetics, 2024
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W et al.
Journal of Ovarian Research, 2023
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
Sassi A et al.
Molecular Genetics & Genomic Medicine, 2021
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.
Venturella R et al.
International Journal of Fertility & Sterility, 2019
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
França MM et al.
Endocrine, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
Li L et al.
Human Reproduction (oxford, England), 2017
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
Bouilly J et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure.
Qin Y et al.
Fertility and Sterility, 2014
Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.
Qin Y et al.
Maturitas, 2014
Gene mutations associated with anomalies of human gonad formation.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.
Bouilly J et al.
Human Mutation, 2011
Genes involved in human premature ovarian failure.
Persani L et al.
Journal of Molecular Endocrinology, 2010
Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.
Qin Y et al.
Fertility and Sterility, 2009
Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes.
Simpson JL
Annals of the New York Academy of Sciences, 2008
NOBOX homeobox mutation causes premature ovarian failure.
Qin Y et al.
American Journal of Human Genetics, 2007
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Rossi E et al.
European Journal of Medical Genetics, 0
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0
Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders.
Batiha O et al.
Journal of Human Reproductive Sciences, 0