Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.
Knight A et al.
Journal of Ovarian Research, 2024
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family.
Alluqmani M et al.
Heliyon, 2024
The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.
Gündüz R et al.
Women & Health, 2024
Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.
Yang X et al.
Frontiers in Medicine, 2023
The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.
Allouch A et al.
Frontiers in Endocrinology, 2023
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Tucker EJ et al.
European Journal of Human Genetics : Ejhg, 2022
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Yuan ZZ et al.
Clinical Genetics, 2021
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Day FR et al.
Nature Genetics, 2015
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).
Ledig S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.
Padovano V et al.
Journal of Cell Science, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Recent developments in identifying genetic determinants of premature ovarian failure.
Skillern A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
Lacombe A et al.
American Journal of Human Genetics, 2006
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Bione S et al.
Human Reproduction (oxford, England), 2004