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
A de novo mutation in FMR1 in a patient with intellectual disability.
Maddirevula S et al.
European Journal of Medical Genetics, 2020
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
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
[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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