Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Molecular genetic analysis of pulmonary benign metastasizing leiomyoma and intravenous leiomyomatosis: a comparative study using whole exome sequencing.
Li J et al.
Discover Oncology, 2025
Case Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.
Yuan Z et al.
Hormone Research in Paediatrics, 2025
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.
Gündüz R et al.
Women & Health, 2024
Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.
Tang F et al.
Journal of Assisted Reproduction and Genetics, 2023
Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.
Ozturk S
Cell Cycle (georgetown, Tex.), 2023
Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.
Xie C et al.
Human Reproduction Update, 2022
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
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.
Yu L et al.
Journal of Assisted Reproduction and Genetics, 2022
Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.
Tang D et al.
Reproductive Biology and Endocrinology : Rb&e, 2021
Meiotic Recombination Defects and Premature Ovarian Insufficiency.
Huang C et al.
Frontiers in Cell and Developmental Biology, 2021
A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
Zhe J et al.
Journal of Ovarian Research, 2019
Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.
Lindblad O et al.
Oncogene, 2016
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014