Associated Papers
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
D'Incal CP et al.
European Journal of Human Genetics : Ejhg, 2025
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C et al.
Genes, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.
Prieto M et al.
Molecular Psychiatry, 2020
A de novo mutation in FMR1 in a patient with intellectual disability.
Maddirevula S et al.
European Journal of Medical Genetics, 2020
Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.
Khayachi A et al.
Nature Communications, 2018
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF et al.
American Journal of Medical Genetics. Part A, 2018
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Quartier A et al.
European Journal of Human Genetics : Ejhg, 2017
In Silico Analysis of FMR1 Gene Missense SNPs.
Tekcan A
Cell Biochemistry and Biophysics, 2016
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