Associated Papers
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Idyahia A et al.
Molecular Biology Reports, 2024
Neonatal lactic acidosis explained by LARS2 defect.
De Paepe B et al.
Pediatric Research, 2023
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 2022
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
Perrault syndrome: Clinical report and retrospective analysis.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2020
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT et al.
Bmc Medical 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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Zerkaoui M et al.
Clinical Dysmorphology, 2017
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
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
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Soldà G et al.
Journal of Human Genetics, 2016
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce SB et al.
American Journal of Human Genetics, 2013
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0