Associated Papers
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†.
Rydze RT et al.
Biology of Reproduction, 2021
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Souissi A et al.
Genetic Testing and Molecular Biomarkers, 2021
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu J et al.
Hereditas, 2020
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM et al.
Journal of Human Genetics, 2020
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Yang X et al.
Journal of Assisted Reproduction and Genetics, 2019
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J et al.
Human Mutation, 2016
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