Associated Papers
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
34828275 (PubMed )
Supplement: genes-12-01669-s001.zip › Supplementary_Table_S3.pdf
Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
Majumder M et al.
Critical Reviews in Biochemistry and Molecular Biology, 2020
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
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
Fragile X syndrome and fragile X-associated disorders.
Rajaratnam A et al.
F1000research, 2017
In Silico Analysis of FMR1 Gene Missense SNPs.
Tekcan A
Cell Biochemistry and Biophysics, 2016
Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.
Luo S et al.
Journal of Child Neurology, 2015
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.
Suhl JA et al.
Journal of Experimental Neuroscience, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf
Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.
Chaudhary AG et al.
Pediatric Neurology, 2014
[From intellectual disability to new treatment modalities of fragile X syndrome].
Jønch AE et al.
Ugeskrift for Laeger, 2014
A nonsense mutation in FMR1 causing fragile X syndrome.
Grønskov K et al.
European Journal of Human Genetics : Ejhg, 2011
[Fragile X syndrome. Diagnosis, genetics and clinical findings].
Hjalgrim H et al.
Ugeskrift for Laeger, 1998
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