Associated Papers
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Dori A et al.
European Journal of Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.
Dugo K et al.
Biomedicines, 2022
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB et al.
Annals of Clinical and Translational Neurology, 2022
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.
Pereira B et al.
Nature Communications, 2021
A variety of changes, including CRISPR/Cas9-mediated deletions, in CENH3 lead to haploid induction on outcrossing.
Kuppu S et al.
Plant Biotechnology Journal, 2020
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
Iorio A et al.
European Journal of Human Genetics : Ejhg, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015