Associated Papers
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Tsai MM et al.
Human Molecular Genetics, 2026
Fontaine progeroid syndrome with neonatal mitochondrial disease.
Riko M et al.
Human Genome Variation, 2025
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Pannier E et al.
Birth Defects Research, 2024
Loss of the mitochondrial carrier, SLC25A1, during embryogenesis induces a unique senescence program controlled by p53.
Kasprzyk-Pawelec A et al.
Biorxiv : the Preprint Server for Biology, 2024
Adenine nucleotide carrier protein dysfunction in human disease.
Mishra G et al.
Iubmb Life, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Fontaine progeroid syndrome-A case report.
Lally S et al.
Clinical Case Reports, 2022
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A et al.
Frontiers in Molecular Neuroscience, 2022
Premature aging disorders: A clinical and genetic compendium.
Schnabel F et al.
Clinical Genetics, 2021
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
Legué J et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2020
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
Ryu J et al.
Bmc Medical Genetics, 2019
Calcium-regulated mitochondrial ATP-Mg/Pi carriers evolved from a fusion of an EF-hand regulatory domain with a mitochondrial ADP/ATP carrier-like domain.
Harborne SPD et al.
Iubmb Life, 2018
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Rodríguez-García ME et al.
American Journal of Medical Genetics. Part A, 2018
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N et al.
American Journal of Human Genetics, 2017
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Writzl K et al.
American Journal of Human Genetics, 2017